Genetic Counseling

Some increased and high-risk women choose to meet with a genetic counselor. With Bright Pink’s Ask a Genetic Counselor resource, you can anonymously submit questions you have about hereditary cancers in general, your personal risk, or how you can be proactive with your health.

Should I Consider a Genetic Counselor?

Although genetic testing can be a powerful tool for cancer prevention, it is not right for everyone. Women at average risk for breast and ovarian cancer likely won’t gain anything from getting tested, but the test is very useful for those who may be at increased or high risk. You should talk to a genetic counselor or your doctor about genetic testing if:

  • You or a first- or second-degree relative have: breast cancer diagnosed at age 50 or younger; more than one breast cancer diagnosis (i.e. cancer in both breasts or multiple primary cancers); ovarian cancer; breast cancer and ovarian, thyroid or uterine cancer diagnosed in a single individual; male breast cancer; Eastern European (Ashkenazi) Jewish ancestry with any history of breast, ovarian or pancreatic cancer

  • You have more than one relative on the same side of the family with breast, ovarian or pancreatic cancer (e.g. two relatives with breast cancer, both on dad’s side of the family)

  • Triple-negative breast cancer

  • And if you have a close relative with a gene mutation associated with breast or ovarian cancer, but haven’t been yet been tested yourself

  • Whenever possible, it’s best to test family members who have been diagnosed with cancer before testing those without cancer. This helps make it easier to interpret test results.

    Before deciding to get genetic testing, you also have to think about whether you’re ready to learn about your cancer risks and what you would do with that information. For example, women at high risk for cancer may be offered surgery to remove their breasts and/or ovaries in order to prevent cancer from developing, and they need to decide if they’re ready to be faced with those decisions. A genetic counselor is specifically trained in these issues and can help you walk through all of your options so you can decide what’s best for you. And our Outreach Groups and PinkPal programs can connect you with other women who have face these same decisions.

Should I worry about my job or my insurance coverage being affected by the test result?

If it’s covered, your insurance company will have a record of your test, but they do not have the right to ask for the results. However, you may choose to share your results, for example, if you are seeking High-Risk screening (a breast MRI, for example) that you want your insurance to cover. In either case, a law called the Genetic Information Nondiscrimination Act, or GINA, keeps your insurance company from denying you coverage or changing your premiums on the basis of your test results. It also protects you from discrimination by your employer on the basis of the test or its results.

For more information about GINA, genetic discrimination, the legal implications of genetic testing, or health insurance contact the Cancer Legal Resource Center’s national Telephone Assistance Line (866-THE-CLRC). Additionally, the Genetic Alliance, the Genetics and Public Policy Center, and the National Coalition for Health Professional Education in Genetics have teamed up to provide a comprehensive website explaining GINA’s protections.

Carey

“Finding out I was BRCA2 positive back in 2011 changed my life-and more importantly my outlook on it.”

Ask a Genetic Counselor

Meeting with a genetic counselor face-to-face can feel like a big move. We’ve created an in-between step where you can ask a certified counselor a specific question to help you start your risk assessment process. With this resource, you can anonymously submit questions you have about hereditary cancers in general, your risk, or how you can be proactive with your health.

A genetic counselor from InformedDNA will answer your questions, and while they can provide general information, they cannot give specific medical advice. When asking your questions, keep in mind that it is difficult and unwise to answer specific personal questions in the absence of a full assessment.

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  • What can I expect at my first genetic counselor appointment?

    CONGRATULATIONS for taking the first step in making an informed decision about genetic testing by scheduling an appointment with a genetic counselor.

    The best way to know what will occur during your first appointment with your genetic counselor is to contact their office directly and ask them what you can expect.

    The reason we recommend that you contact them directly is that the information covered during your initial genetic counseling appointment varies depending on who is providing the service.

    In general, you should know that by working with a genetic expert BEFORE getting tested you will learn about:

    the chance that the cancers in you and/or your family members were caused by a hereditary gene mutation, and

    the risks, benefits, and limitations of genetic testing for hereditary cancer, and

    the medical management options (cancer screening and risk reduction) that are important for you and your doctors to consider whether or not you have genetic testing, and

    the impact that a positive (where a mutation causing hereditary cancer is found) or uniformative (where no mutation or a variant of uncertain significance is found) genetic test result would have on you and your family members.

    The information provided and the questions you ask will help you make the most informed decision about genetic testing for yourself and/or your family.

    By scheduling an appointment with a genetic counselor you are well on your way to making sure that, whatever you decide about genetic testing, it will be the best decision for you.

  • Do specific BRCA2 mutations have a higher risk for breast vs ovarian cancer? My dad has Dup Exon 5-11. I guess it’s never been seen before?

    It is not yet possible to offer specific breast and ovarian cancer risk estimates to patients with different BRCA2 mutations according to a 2004 publication in the medical journal Familial Cancer (Fam Cancer. 2004;3(1):1-10.). Many studies suggest that the location of the mutation, and other factors such as ethnic background, may affect cancer risks associated with BRCA2 gene mutations. However, Myriad Genetic Laboratories as well as the lead researchers and clinicians who specialize in this field agree that we do not have specific enough information to provide different risk estimates or medical management recommendations for individuals based on their specific BRCA2 mutation at this time.

    As you may know, the ovarian cancer risk estimates for BRCA1 (up to 44% by age 70) vs. BRCA2 (up to 27% by age 70) gene mutations are different. The breast cancer risk estimates are similar regardless of whether your mutation is in the BRCA1 or BRCA2 gene (up to 87% by age 70-80).

    A list of specific cancer risks for BRCA1 and BRCA2 mutation carriers can be found at: http://www.myriadresourceguide.com/pdfs/cancer_risk_brca1_brca2.pdf

    Based on your message, it appears that you have not yet had genetic testing. We strongly encourage you to seek a consultation with a genetics expert both BEFORE and AFTER genetic testing. You can search for a local genetics expert at www.nsgc.org in the “Find a Counselor” section. Another option to consider is genetic counseling by telephone. For information about these expert services provided by telephone, please go to www.informedDNA.com.

    We hope you find this information helpful and that you continue to seek out experts in this field when you have questions about hereditary cancer.

  • I had 2 small bumps on my breast near the nipple both about 2 cm apart. Does this mean I have breast cancer, or if it doesn’t what does it mean?

    The only way to know whether any physical signs may be related to breast cancer is to have a physical examination with your doctor. Please go to your doctor at your earliest convenience to have a thorough clinical breast exam. Your doctor may order additional screening or diagnostic tests (such as a mammogram) to help determine whether or not breast cancer could be the cause of your symptoms.

    A good resource for more information is the American Cancer Society website.

  • I have tested positive for BRCA1 and have had an oophorectomy. My mother died of peritoneal cancer. Is my chances of getting primary peritoneal cancer higher due to my mother having had it start there?

    There is no evidence to suggest that women with BRCA1 gene mutations, whose relative has developed primary peritoneal cancer, have a greater risk than any other BRCA1 positive woman to get primary peritoneal cancer. In other words, our current understanding is that you are not more likely to get primary peritoneal cancer just because your mother did. You can read more about primary peritoneal cancer here.

    You should take pride in the fact that you have taken the most aggressive step to help reduce your risk of getting an ovarian-like cancer by having a prophylactic oophorectomy. This surgery removed both of your ovaries and both of your fallopian tubes. However, removal of the peritoneum is not possible. Therefore, your risk to get an ovarian-like cancer, even after a prophylactic oophorectomy, is not zero.

    A recent study published in the Journal of the American Medical Association suggests that BRCA mutation carriers who have their ovaries and fallopian tubes removed prophylactically have less than a 5% chance to get an ovarian-like cancer within 20 years of the surgery (JAMA. 2006 Jul 12;296(2):185-92). So, by having this surgery, you have reduced your risk to get an ovarian-like cancer as much as possible. In addition, having a prophylactic oophorectomy (especially before the age of natural menopause) also reduced your risk to get breast cancer. You can read more about the benefits and limitations of prophylactic oophorectomy on the Mayo Clinic’s website.

    We hope you find this information helpful and that you continue to seek out experts in this field when you have questions about hereditary cancer.

  • How do I go about getting the gene test that’s needed to find out if I carry the gene? I come from a long line of breast & overian cancer.

    Based on your message, it appears that you have not yet had genetic testing, but genetic testing may provide you with useful information about your breast cancer risk. We strongly encourage you to seek a consultation with a genetics expert (genetic counselor) both BEFORE and AFTER genetic testing. Your eligibility for genetic testing (and whether or not your insurance will cover the testing) will be dependent upon the assessment by your genetic counselor. This will include a family history evaluation of the ages at diagnoses and the presence of other types of cancer or pre-cancerous conditions within your family.

    You have two very good options for finding a counselor to speak with.

    1. You can search for a local genetics expert at www.nsgc.org in the “Find a Counselor” section.
    2. You can have genetic counseling by telephone. For information about these expert services provided by telephone, please go to www.informedDNA.com or call 800-975-4819 to schedule an appointment. This happens to be the company I work for and we staff only board certified genetic counselors and you would be schedule with a counselor who has expertise in cancer genetics.

    If after talking with your genetic counselor, you elect not to proceed with genetic testing, your counselor can provide you with a specific risk assessment as well as some recommendations for screening and medical management based upon your family history of breast cancer.

    We hope you find this information helpful and that you continue to seek out experts in this field when you have questions about hereditary cancer.

  • My girlfriend has a family history of breast cancer (mother diagnosed when she was a teenager). I have a few questions: 1. When should she start mammograms? 2. Should she have a double mastectomy. I saw a story about this on CNN, is this a standard procedure and is there still a breast cancer risk if this is done?

    You have a lot of very appropriate questions and hopefully I can answer or at least direct you a bit on this topic.

    1. Regarding mammograms – the general recommendation is to begin at age 40 and perform them yearly, but for women who are at an increased risk based on their family history they are often instructed to begin them sooner. The age at which they start can be dependent on many factors including her age, the age of the youngest breast cancer in her family as well as more personal factors such as the age she was when she had her first period etc.
    2. Regarding prophylactic mastectomy- this is a VERY personal choice and is rarely considered unless a woman has tested positive for a genetic mutation that is known to cause a very high risk of breast cancer. Studies have shown that this type of surgery can reduce a woman’s risk to develop breast cancer by up to 90%, but there are other options to consider for women at higher risk – including more stringent screening and/or medications to reduce breast cancer risk. All of these options are available to women if they are at a very high risk to develop breast cancer as determined either by genetic testing or a thorough risk assessment by a genetic expert. Genetic testing can be done to find out if your girlfriend is at an increased risk. Based on your message, it appears that she has not yet had genetic testing, but genetic testing may provide her with useful information about your breast cancer risk. There are many factors to be considered prior to genetic testing.

    Both of your questions can be addressed more specifically and directly by consultation with a genetics expert (genetic counselor). You girlfriend’s eligibility for genetic testing (and whether or not her insurance will cover the testing) will be dependent upon the assessment by her genetic counselor. This will include a family history evaluation of the ages at diagnoses and the presence of other types of cancer or pre-cancerous conditions within your family. Additionally, even if genetic testing is not something she wants to consider or she is not eligible for the testing, her genetic counselor can perform and individualized risk assessment and determine if she should be undergoing screening at an earlier age. This will also include recommendations for additional screening (i.e. breast MRI) if her risk is determined to be high enough.

  • My mother in law just got a postive result for a gene mutation on her brac analysis testing. She currently is battling ovarian cancer. My husband and his siblings will be tested soon. We have 3 kids ages 18, 16 and 11. If my husband is found to also carry this “bad gene”, I know we need to have the kids tested, too. I don’t want them to be worried about potential results or (if found to be positive) I don’t want this hanging over their head like a cloud of doom. Can you offer any advice on how to handle this with them? Our oldest is a girl and off to college soon. Information is power to most…. depressing to others! Thanks for any advice!

    First off, I want to commend you for taking the step to get some additional advice about your situation. Bright Pink is certainly the right place for you to find additional information and resources for you and your family. I am a certified genetic counselor and work with families like yours all the time in helping them to make these very difficult decisions.

    Based on current national guidelines we would not recommend any sort of testing on your children (assuming your husband does test positive) until they AT LEAST reach the age of 18. At that age, some young women can handle getting tested and the reality of the results, for others it may be more difficult. Whether or not she chooses to have testing is a very personal choice. I know of women who have elected this at age 18 and those who have decided to wait a bit to have the testing. Your daughter may benefit from a conversation with a genetic counselor that would entail learning about her chances to test positive, what it would mean if she does test positive as well as some of the implications for her medical management. In addition to this discussion, genetic counselors are trained to facilitate decision making and help people make a decision that is the best one for them by laying out all of the implications of each choice. If she elects not to do testing at age 18, she should speak with a healthcare provider about screening recommendations for someone in her risk category as increased screening begins at age 18 for women at risk for hereditary breast and ovarian cancer syndrome.

    If your husband is negative for the mutation in his family, this certainly would change the risk factors for your children.

    You have two very good options for finding a counselor to speak with.

    1. You can search for a local genetics expert at www.nsgc.org in the “Find a Counselor” section.
    2. You can talk with a board certified genetic counselor by telephone. For information about these expert services provided by telephone, please go to www.informedDNA.com or call 800-975-4819 to schedule an appointment.

    There are also some very good resources on BP for your daughter. These include chat rooms for young women that have been through this situation. This can be an excellent resource and place for you to direct your daughter if you find out she is at risk after results from your husbands testing. The women on BP are all young and have been affected in some way by breast or ovarian cancer in their family.

  • I had the BRCA 1 & 2 test done it came back neg. I have 2 aunts on my father’s side that had breast cancer and there is other cancers too, and 1 great aunt and 2 second cousins on my mother’s side none of her siblings have any cancer. Should I be worried about my son (30) and 2 daugthers (11 & 13?. I also had a double mastectomy on the 20th of January. I always said if I ever got breast cancer I would have a mastectomy and no reconstruction surgery. I’m concerned about my children and relatives. Please answer. Thank you!

    First off, thank you for having the courage to contact us for additional guidance and assistance. We are here to help answer your questions and provide information that may guide you through the process.

    Based on the information you provided, it is still possible that you and your children may have an increased risk for the cancers in your family (a risk that is higher than the average person). The exact risk for you could be determined by a genetic counselor. There are many different risk models that can be used and your genetic counselor will determine which of these models will most accurately predict your risk to develop cancer. These models include information on your family history of cancer, the age you had your first period, the age you gave birth to your first child and if you have had any breast biopsies. All of these pieces of information play a role in determining your breast cancer risk. Once your risk is determined, your genetic counselor will be able to provide you with specific ways to reduce your risk (i.e. additional screening, medication etc) although in your case, since surgery has already been performed there may be no additional recommendations. Additionally, a genetic counselor can also review your family history to make sure genetic testing for another known hereditary form of cancer is not warranted in your family. BRCA 1 and 2 are the most common genes that are involved in hereditary breast cancer but they are not the only genes. Finally, BRCA genetic testing in one of your paternal relatives with cancer may provide you more information about the meaning of your test results.

    You have two very good options for finding a counselor to speak with.

    1. You can search for a local genetics expert at www.nsgc.org in the “Find a Counselor” section.
    2. You can talk with a board certified genetic counselor by telephone. For information about these expert services provided by telephone, please go to www.informedDNA.com or call 800-975-4819 to schedule an appointment.
  • At the age of 35, I was diagnosed with in-situ breast cancer and tested positive for BRCA-2. I had a double mastectomy, and now as I approach 40, I wonder what to do regarding my increased risk for ovarian cancer. I receive a transvaginal ultrasound and CA-125 screening annually. My wish is to postpone preventative oophorectomy to as close to natural menopause as possible. What are the recommendations for this as well as studies that support it? There is no ovarian cancer in my family, and I am reluctant to go through menopause so early. Also, what types of specialists should I be meeting with to determine my course of action? My gynecologist is wonderful but does not seem thoroughly knowledgeable about this issue. It seems that most physicians, erring on the side of caution, are quick to suggest taking out the ovaries at 40 or after childbearing, but I need to meet with doctors who are willing to weigh the cost/benefit.

    The decision about prophylactic oophorectomy is always difficult in women who haven’t gone through menopause yet. I can definitely understand why you’d want to delay the procedure, and it’s often hard to figure out what the best course of action is.

    Even though the ovarian cancer risk differs between the two genes, it’s generally recommended that women with both BRCA1 and BRCA2 mutations consider removing their ovaries ideally between ages 35-40 or after they are done having kids. This is recommended by the National Comprehensive Cancer Network (NCCN) because the benefits of reducing ovarian cancer risk (in terms of decreasing mortality) outweighs the overall risks associated with surgery and premature menopause. I’m not sure if you’re looking for detailed info or a summary when you asked what studies back these recommendations up, but here is a list of references that the NCCN used when making their recommendations:

    • Burke W, Daly M, Garber J et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer: Part II. BRCA1 and BRCA2. JAMA 1997;277:997-1003.
    • Rebbeck TR, Lynch HT, Neuhausen SL et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346(21):1616-22.
    • Kauff ND, Satagopan JM, Robson ME et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002;346(21):1609-15.
    • Piver MS, Jishi MF, Tsukada Y, Nava G. Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer 1993;71(9):2751-5.
    • Levine DA, Argenta PA, Yee CJ et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 2003;21(22):4222-7.
    • Rebbeck TR, Levin AM, Eisen A et al. Breast Cancer Risk After Bilateral Prophylactic Oophorectomy in BRCA1 Mutation Carriers. J Natl Cancer Inst 1999;91:1475-1479.

    Although the benefits of oophorectomy outweigh the risks when you group all BRCA1/2 carriers, the risk-benefit ratio may not be the same for all individual women who carry BRCA1/2 mutations. Things you need to take into consideration include:

    • Whether or not there is ovarian cancer in your family – Your risk is not necessarily lower if there is no ovarian cancer in your family. But the recommendation for oophorectomy would be stronger if there is ovarian cancer in the family, especially if it is diagnosed at a young age.
    • Desire to have children in the future – Many women postpone oophorectomy until they are done having kids.
    • Management of menopausal symptoms – Oophorectomy causes instant menopause, and symptoms have the potential to be severe. Annoying symptoms (e.g. hot flashes) can often be treated with medications. Short-term hormone therapy can relieve symptoms and is offered to women without a history of breast cancer. Your doctors probably don’t want to put you on any hormones since you have a history of DCIS, but it’s possible they would consider it since you have had a double mastectomy. It’s also important to note that premature menopause can increase the risk for things like heart disease or osteoporosis. If you already have problems with these types of conditions, your doctors would need to do a more careful comparison of the risks and benefits of oophorectomy for you personally.

    The bottom line is that you have to be comfortable with whatever decision you make. You have a higher than average risk to develop ovarian cancer before you reach menopausal age, but for most BRCA2 carriers, odds are in favor that they will not develop ovarian cancer before menopause (your specific risks may be different based on your family history and particular BRCA2 mutation). You will have to decide if the very high chance of having menopausal symptoms is more or less frightening than the relatively lower chance of developing ovarian cancer before menopause. The first scenario is likely to occur but will not be life-threatening, while the second scenario is statistically less likely but is life-threatening.

    Additionally, you have to think about what ovarian cancer means to you. Many women choose oophorectomy because they have relatives who died of ovarian cancer, and the disease means something different to them than it does to a woman without a family history of ovarian cancer. It may be helpful to talk to other people about their decision to pursue or not pursue oophorectomy, and ask them questions about why they did it.

    Finally, Fox Chase Cancer Center has a very useful decision guide on this topic. This link tells you more about it, and you can obtain a copy for free by emailing [email protected].

    Even though the NCCN recommends considering oophorectomy, you’ll probably find that physician opinions may vary greatly when discussing the pros and cons of the procedure. Individual doctors have different areas of expertise, but in general the specialist with the most experience about this topic is probably a gynecologic oncologist. Gyn oncs are trained both in general gynecology and oncology. One thing to note is that gynecologic and general oncologists’ opinions are colored by the fact that they treat people with cancer. Therefore some may have a tendency to place the cancer risk reducing options as a higher priority. On the other hand, general ob/gyns have a lot of experience treating healthy women who suffer from menopausal symptoms. So they have that perspective that may affect their opinions. It’s important to keep these factors in mind as you search for a doctor that will understand your personal priorities while finding the best balance between risk reduction and maintaining a good quality of life.

  • Hello, I am a breast cancer survivor, who recent went met with a genetic counselor. My mother died of breast cancer, and I have two sisters who have never had cancer. According to the computer model, my risk of carrying a mutation in either the BRCA1 or BRCA2 gene is 4 percent. I have two uncles who were diagnosed with colon cancer and one with an unknown diagnosis of cancer. The genetic counselor told me that colon cancer would not have an effect on the breast cancer mutation gene. The genetic counselor gave me The Little Bright Book, which I really enjoyed. I do need some clarification, though. When I told my sister about my meeting with the genetic counselor, my sister had some questions that I could not answer. Perhaps you can provide some guidance. 1) If I take the genetic test and test negative, do my my sisters have a higher risk of testing positive? 2) If I take the test and test positive, do my sisters have a higher risk of testing negative? 3) If I take the test and test positive, will my sisters’ health insurance cover the costs of their tests?

    I can’t give you definitive information about your personal risks without doing a full genetic counseling consult, but based on the details you provided, your genetic counselor’s assessment of 4% chance of you carrying a BRCA1/2 mutation sounds reasonable. I would concur that the colon cancer in the family does not impact your risk of carrying a BRCA mutation. It does increase your risk for colon cancer, and you should discuss with your doctors how this may change your colon screening recommendations, but colon cancer is not typically associated with BRCA mutations.

    As for your other questions, we don’t know if anyone in your family carries a BRCA mutation. Individuals with cancer have a higher chance of carrying a mutation than those that have not had cancer, therefore we assume your sisters’ chance of carrying a BRCA mutation is lower than yours. If you get BRCA testing and you test negative, that significantly lowers your chance of carrying a BRCA mutation (it doesn’t completely rule out the risk because genetic testing is not perfect). Additionally, your sisters’ chances of carrying a mutation is lowered as well, since their risk is lower than yours.

    If you test positive for a BRCA mutation, your sisters would each have a 50% chance of testing positive as well. You and your sisters each got 1/2 of your mother’s genes and 1/2 of your father’s genes. But if you inherited a gene, it doesn’t affect the chance that your sisters inherited it too, and they still have a 50/50 chance.

    It is standard of care to offer BRCA testing when someone else in the family carries a known BRCA mutation. Therefore if you test positive, it is highly likely that your sisters’ insurance will cover the cost of testing. However each plan differs, and some plans exclude coverage of any genetic testing at all. Though most insurance plans would cover your sisters’ tests if you test positive.

  • I am a 37 year old woman with no current history of breast or ovarian cancer. My mother carries a BRCA1 mutation, but I tested negative for it. On my mother’s side, there is history of prostate and ovarian cancer – all were diagnosed in their late 40′s. I have received very conflicting advice regarding both how to monitor my own health as well as recommendations on whether prophylatic surgeries are appropriate given my close family history but negative test. Most doctors seem to indicate the BRCA mutations are certainly multi-factorial and that I am at increased risk, but don’t seem to have a plan for how to approach patients in my situation. Do you have any advice on monitoring and whether prophylatic surgeries make sense? Thank you.

    Finding out there is a BRCA mutation in your family is never an easy process. I’m so glad you found Bright Pink as a resource to help you sort through the facts and get in touch with other women in your situation.

    I can’t speak to your specific recommendations without doing a complete risk assessment and genetic consult for you, but in general women who test negative for a BRCA mutation that is in the family have cancer risks that are similar to that of the general population. There may be some non-BRCA factors that you share with your relatives with cancer that could increase your cancer risk, but your risk is probably not significantly higher than the average woman. Therefore women who test negative for a known family mutation generally follow screening guidelines for the average woman and do not consider getting preventive surgery. Most genetic professionals would consider women who test negative for a known family mutation to NOT be at increased risk for cancer.

    However, your providers may be considering other factors that I’m unaware of since I haven’t done a complete risk assessment seeing you as my own patient. When seeking advice from medical professionals, it’s helpful to go to someone who has had specific training in genetics and/or sees a high volume of patients who are at high risk for breast and ovarian cancer. If you haven’t already, it would be helpful to speak with a genetic counselor. You can find one in your local area at http://www.nsgc.org/Home/ConsumerToolsResources/tabid/311/Default.aspx. Alternatively, genetic counseling is available via telephone through www.informeddna.com.

  • Hello. I am interested in the genetic testing. My grandmother, 2 great aunts, and my great-grandmother all died from breast cancer. My grandmother was diagnosed with breast cancer when she was 35. I would like to get tested and am wondering if insurance covers the cost and if not, what is a normal price range for the test? Thanks for your help.

    Based on your family history, I can certainly understand your concern and your interest in genetic testing. You do meet the National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 genetic testing, and therefore there is a decent chance that your insurance will cover the cost of testing. You and your healthcare providers would need to look at your insurance plan’s specific criteria (if they have criteria) to determine whether or not testing would be covered, but most insurance companies do cover approximately 80% or more of the cost of testing.

    The type and cost of testing depends on your ethnicity and who else in the family may have already undergone testing. Comprehensive testing of the BRCA1/2 genes is $3340. It may be more appropriate for individuals of Eastern European (Ashkenazi) Jewish descent to have a more targeted BRCA1/2 test, which costs $575. Finally, when someone else in the family has been identified as carrying a BRCA mutation, the single site test ($475) provides the most accurate test results for other relatives.

    It is important to note that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower your risk for cancer. A genetic counselor can help you and your family figure out who in the family is the best person to test (i.e. testing one of your parents may provide more information than testing you), fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results. Additionally, a genetic counselor will help you explore how genetic testing could impact you socially (e.g. self image, relationships, family planning, etc) in addition to discussing the medical implications of genetic testing.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • Where can i go to get this genetic test done? My mom had breast cancer at 40. I have gotten a mammogram every year for the last 3, but my ob gyn is always concerned since i am 38, never had kids, was on birth control for almost 20 years and do get cysts on my ovaries, and have a few abnormal pap tests. Is this genetic testing done with my regular doctor and does health insurance cover it?

    Thank you for taking the time to submit a question. I understand your concerns and am glad you’re seeking support and information from BP. I hope you’ll find this information helpful.

    Although most breast cancer is not hereditary, if you’re concerned about that possibility in your family, I’d suggest that you consider meeting with a certified genetic counselor. A genetics expert who specializes in cancer can review your family medical history as well as any personal risk factors you may have and determine if any extra or earlier testing is indicated for you. Based on this information, they can help you outline a screening plan that is most appropriate and share it with you and your doctor.

    It’s important to note that genetic tests aren’t always straightforward to interpret, and a normal genetic test result does not necessarily lower your risk for cancer. A genetic counselor can help you and your family figure out who in the family is the best person to test, fully explain the benefits and limitations of testing, facilitate the genetic testing process, and interpret your results. In addition, they can give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results. A genetic counselor will help you explore how genetic testing can impact you socially (e.g. self image, relationships, family planning, etc) in addition to discussing the medical implications that are sometimes associated genetic testing.

    In regard to insurance coverage, most insurance companies will cover some or all of the cost of genetic testing when it is medically indicated. You can contact your insurance carrier for specific coverage information or ask your genetic counselor for information about cost and billing.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • I will be 49 yrs old this year. My mother died of Breast Cancer when she was 38 yrs old. My Grandmother (her mother) also died of BC in her 50′s. On my father’s side… my father died of Prostate cancer, and my brother is currently terminally ill from Prostate Cancer. I also have an aunt and two cousins on my father’s side who were diagnosed with Breast Cancer. To date, I have had 2 lumps removed (B9) and recently had a diagnostic mammo which uncovered calcifications on both breasts (new from last years mammo). Pathology stated Ductal Hyperplasia and Sclerosing Adenosis. So, basically benign. I was advised that it might be a good idea to do Genetic testing, but I am still undecided. Is there any advice/recommendations you can give me?

    Thank you for taking the time to submit a question, I understand your concerns and am glad you are seeking support and information from BP. I hope you will find this information helpful.

    Based on your family history, I can understand your concern and your consideration of genetic testing. Your family does meet the National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 genetic testing. It is important to note though that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower your risk for cancer. A genetic counselor can help you and your family figure out who in the family is the best person to test, fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your personal and family medical history and any genetic test results. Additionally, a genetic counselor will help you explore how genetic testing could impact you socially (e.g. self image, relationships, family planning, etc) in addition to discussing the medical implications of genetic testing.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • I tested positive for BRCA2 6 months ago. I have my first MRI coming up in 2 months and am feeling pretty apprehensive about it. I understand that my lifetime risk of breast cancer is 80%, but does this mean that every time I have a scan, there is an 80% chance of a dx of cancer? I don’t really understand the distinction between the two, if there is one. Also, even though this is a genetic risk, is there anything in addition I can do to minimize my risk in any way?

    Thank you for taking the time to submit a question. I understand your concerns and apprehension about your upcoming MRI. I’m glad you’re seeking support and information from BBP. I hope you’ll find this information helpful.

    To answer your question concerning cancer risk, the lifetime risk for breast cancer given to someone with a BRCA mutation is defined as the probability in which that person will develop breast cancer at some point in her lifetime. This number doesn’t fluctuate annually. Referencing the number that you provided, this means that if we followed 100 women with a BRCA mutation for their entire lifetime, 80 of them would develop breast cancer at some point. However, the risk at each breast MRI or mammogram is not 80%. I hope that helps clarify the meaning of those numbers.

    In terms of minimizing cancer risk, there are risk reducing options available to women with a BRCA2 mutation. One consideration is to meet with a genetic counselor to discuss the national guidelines (NCCN) for individuals with a BRCA2 mutation. A genetic counselor can offer you cancer screening and prevention recommendations that incorporate both your personal and family medical history as well as your genetic test results. Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • Many thanks for replying to my question and for responding so quickly. I live in Ireland so our system works differently, but I’ll certainly follow up on your advice. I’m happy for my questions and your response to be shared; websites like BBP are providing a lot of support and advice for me at the moment and I’m very grateful for that.

    I’m so glad that you’re finding support through BP. Thank you for letting us share your question.

    Thank you for letting me know where you are located. The link below is to a directory of genetic counselors in many countries, including Ireland. I know that your health system is different, however, meeting with a genetic counselor would be a helpful resource for you, and would provide a forum in which you can discuss risk reduction and preventive options. Your physician may also be aware of local services that aren’t listed here.

  • For high-risk women who are not ready to go through surgical menopause, would there be any benefit to removing only one ovary and fallopian tube? If a woman has two ovaries and one is removed, logic would say her risk of ovarian cancer is decreased, but I’ve never heard anyone talk about this or study it.

    Thank you for taking the time to submit a question to BP. I hope you will find this information helpful.

    I do not know the answer to your question and am not aware of any data that looks at ovarian cancer risk reduction by removing one ovary. You may consider discussing this, as well as the risks and benefits of removing the ovaries, with your gynecologist or a gynecological oncologist. In addition, if you have not already done so, you may consider meeting with a genetic counselor to discuss other risks and recommendations for women at higher risk for ovarian cancer.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • I was diagnosed with stage 3 breast cancer at age 39. My maternal grandmother died of breast cancer in her 60s. Should I be tested for the brca gene? Should my 16 year old daughter be tested?

    Thank you for taking the time to submit a question to Bright Pink. I hope you will find this information helpful.

    I can certainly understand your concern and your interest in genetic testing. Based on your age at diagnosis, you do meet the National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 genetic testing. Genetic testing is most informative when a family member who has been diagnosed with cancer is tested. The results of these tests determine if genetic testing is necessary for the rest of the family. In reference to your daughter, it’s important to note that genetic testing for BRCA1/2 is not typically administered prior to age 18. That information does not generally alter medical plans prior to adulthood.

    It is important to note that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower the risk for cancer in a family. A genetic counselor can help you and your family decide who in the family is the best person to test, as well as fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results. Additionally, a genetic counselor will help you explore how genetic testing could impact you socially (e.g. self image, relationships, family planning, etc) in addition to discussing the medical implications of genetic testing. A genetic counselor will also be able to discuss the implications of genetic testing for your daughter and other family members.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

    I hope this information is helpful. Please respond to this message and let us know if you are willing to have your message (without any of your personal identifying information) and our response posted to the Bright Pink website to benefit others who may have a similar question. Let me know if you need anything else!

  • I was currently diagnosed with BRAC2. I am currently 31 about to turn 32 with Two children and married. I recently saw my OBGYN and I am considering doing the hysterectomy to prevent ovarian cancer. I currently have cysts on my ovaries and have had endometriosis. My OBGYN is considering doing oophorectomy. I’m nervous about leaving in my uterus and with this mutation could turn into uterine cancer. My mother is the one who passed this on to me, she has had breast cancer twice and displasia on her uterus along with cysts on ovaries. She had a full hysterectomy at the age of 32 and a lumpectomy with radiation at 42 and a mystectomy with chemo at the age of 58. I really do not want to follow this path and I am considering doing a bilateral mastecyomy. Can you please help me make some educated decisions?

    Thank you for taking the time to submit a question. I understand your concerns and am glad you are seeking support and information from BP. I hope you will find this information helpful.

    As you know, the primary cancer risks associated with a BRCA2 mutation are those of the breast and ovaries. A significantly increased risk for uterine cancer has not been consistently shown to be associated with BRCA mutations. The national guidelines by the NCCN (National Comprehensive Cancer Network) for women with a BRCA mutation recommend prophylactic oophprectomy (preventive removal of the ovaries and fallopian tubes) ideally between ages 35 and 40 or when they are through having kids. However, this does not take into account any personal or family medical history that may indicate the need for removal of the uterus. One considerable option is to meet with a gynecological oncologist in addition to your general gynecologist. A gyn onc is a doctor who is trained in both general gynecology and oncology. They may be able to assess any additional risk you have as well as provide you with risk reducing options. In addition, they can discuss the risks, benefits, and limitations of hysterectomy (removal of the uterus) and oophorectomy.

    In terms of prophylactic mastectomy, this is a VERY personal decision. Studies have shown that this type of surgery can reduce a woman’s risk of developing breast cancer by up to 90-95%, however, there are other options to consider for women at higher risk. These include additional stringent screenings and/or medications to reduce breast cancer risk. You can also consider meeting with a breast surgeon and a plastic surgeon to learn more about the risks, benefits, and limitations of bilateral mastectomy as well as reconstruction options. Although this is a personal decision, it can also be helpful to speak to other women who have undergone similar experiences. You may be more comfortable speaking with other women who have been in your position, as opposed to only speaking with your doctor. A breast surgeon can also review the breast screening recommendations for women with a BRCA mutation with you.

    Also, if you haven’t already, I would recommend that you meet with a genetic counselor to discuss all of these issues in more detail. A genetic counselor can help you interpret your results and provide you with cancer risk estimates, as well as give you cancer screening and prevention recommendations that incorporate both your family history and genetic test results. Additionally, a genetic counselor can help you coordinate your care and/or provide you with a referral to appropriate physicians. Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • I was diagnosed with stage 3 breast cancer at age 39. My maternal grandmother died of breast cancer in her 60s. Should I be tested for the brca gene? Should my 16 year old daughter be tested?

    Thank you for taking the time to submit a question to Bright Pink. I hope you will find this information helpful.

    I can certainly understand your concern and your interest in genetic testing. Based on your age at diagnosis, you do meet the National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 genetic testing. Genetic testing is most informative when a family member who has been diagnosed with cancer is tested. The results of these tests determine if genetic testing is necessary for the rest of the family. In reference to your daughter, it’s important to note that genetic testing for BRCA1/2 is not typically administered prior to age 18. That information does not generally alter medical plans prior to adulthood.

    It is important to note that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower the risk for cancer in a family. A genetic counselor can help you and your family decide who in the family is the best person to test, as well as fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results. Additionally, a genetic counselor will help you explore how genetic testing could impact you socially (e.g. self image, relationships, family planning, etc) in addition to discussing the medical implications of genetic testing. A genetic counselor will also be able to discuss the implications of genetic testing for your daughter and other family members.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

    I hope this information is helpful. Please respond to this message and let us know if you are willing to have your message (without any of your personal identifying information) and our response posted to the Bright Pink website to benefit others who may have a similar question. Let me know if you need anything else!

  • I am 35 years old and positive for BRCA 2. My older sister is 38, is also positive, and has breast cancer. She has had one breast removed, is going through chemo now, followed by radiation, and then a year after radiation she will have her other breast removed and undergo reconstruction. I need to decide what is best for me. I feel like if I don’t get my ovaries removed and both breasts with reconstruction, I am just waiting until the day I do have cancer and will have to go through so much more. I’m a single parent and the only income, so I need to be off work as little as possible. I also want to make the best decision for my health so I can be a good mother. With my sister having cancer and me being BRCA2 positive, do you think those choices (having both surgeries) are radical choices? Which surgery do you think should be done first with my risk?

    You are making some difficult decisions, and I’m glad you found Bright Pink as a resource to help you through this time in your life. I don’t know your specific reasons for undergoing BRCA testing, but I imagine that, like most women who get testing, you wanted the knowledge in order to be able to do something about your risk. That being said, it is not at all radical for you to be considering preventive surgery for your breasts and ovaries. Both are considered valuable options for women at high risk for breast or ovarian cancer.

    From a medical standpoint, there is not a major advantage to having a mastectomy versus aggressive screening (i.e mammograms and breast MRI) when it comes to risk of dying from cancer. Both options are effective at preventing death from cancer. However as you know, there are many other factors to consider besides fear of dying from cancer. In order to decide what is best for you, think about whether you would do anything you could to prevent being diagnosed with breast cancer, or if a diagnosis would be ok as long as the cancer was treatable and early stage. Are you planning on having more children and/or is breastfeeding something that you would want to be able to do in the future? Are you comfortable with the idea of breast reconstruction, or do you fear that your body image would be damaged? Do you feel reassured getting a mammogram/breast MRI every 6 mos-1yr, or is it a terrifying process? Preventive mastectomy brings about both fear (of surgery, body image, and the unknown) and peace of mind (knowing your cancer risks are greatly reduced) – which feeling is stronger in you? Do you have any medical issues that put you at higher risk than the average person if you undergo surgery? What’s going on in your life right now? Are there other stressors in addition to these decisions? Is this a good time for you to be considering surgery? Once you think through the answers to questions like these, you may have a clearer picture of what option is best for you. Also remember that what’s right for you now doesn’t have to be a permanent decision. If you choose to have increased breast screening now, you can still choose to have a mastectomy later if it’s a better time for you.

    While mastectomy is not necessarily required since good breast screening techniques are available, it is recommended that women with a BRCA mutation have their ovaries removed around age 35-40 or after they are finished having children. That being said, it’s not exactly clear what the right age is to undergo this surgery. You should discuss the risks and benefits of this surgery with your healthcare providers. There are risks involved with premature menopause, though those risks are usually outweighed by the ovarian cancer risk in BRCA carriers. Your doctor can give you more information about whether you may have higher than average risks associated with surgery to remove your ovaries.

    As far as which surgery to have first, most patients undergo surgery for the cancer that they have the most anxiety about. Breast cancer is more likely to be diagnosed at a younger age, and the chance of developing breast cancer is significantly higher than the risk of ovarian cancer, so many women opt to undergo breast surgery first. However, ovarian cancer is a more deadly cancer, so other women choose to have their ovaries removed first, especially if they have ovarian cancer in their family.

    You seem to be well aware of your preventative options, and there is not a clear right answer regarding which options are best. Meeting with a health psychologist (if possible, one that has experience counseling women with BRCA mutations) may be very helpful for you to sort out how each of these options would affect your lifestyle and current situation. If you haven’t met with one yet, it may also be helpful for you to discuss these options with a genetic counselor. You can schedule a telephone appointment with a genetic counselor at www.informedDNA.com or 800-975-4819, or you can search for one in your local area at http://www.nsgc.org/ FindaGeneticCounselor/tabid/64/Default.aspx. I also encourage you to use Bright Pink to reach out to other women who have had to make these choices and learn from their experience. Many women find the message boards or the Pink Pal program especially useful.

  • I am a 23 year old with a very strong family history of breast cancer. My maternal grandmother lost her battle to cancer when she was 45, my aunt when she was 50. My mother is a 12 year survivor, diagnosed when she was 38, her younger sister was diagnosed at 40. When my aunt passed away my mom and aunt decided to get the genetic testing which came back as BRCA positive. I am struggling to determine what the best course for me will be. I have done my homework and have also met with my doctor to discuss genetic counseling. I am delaying getting the test as I do not want to get it without having an idea in mind of what I will do with the results. Do you recommend that women make up their mind on what they will do if they are BRCA positive prior to having the testing done? Also, I am concerned as to how this may possibly affect me from an insurance stand point. If I do test positive and choose to have surgery, is surgery as well as reconstruction typically covered? And if I choose to not have surgery and develop breast cancer, is it considered a pre existing condition since I was tested?

    Navigating this high risk world is challenging and often scary. I’m so glad you’ve found Bright Pink to help you sort through all your options.

    It’s always helpful if people have a good idea of what they’d do if a test comes back positive, just so you’re not burdened with information that will spur you to act before you’re ready. However, you never know how you’re going to react until you actually receive the news, and we’ve certainly seen people make different decisions than they thought they’d make. So while it’s good to have an idea of what options you’d choose, it’s also ok if you need the reality of the results before you’re able to make a final decision.

    The important part is that you feel ready to accept the results, and are comfortable acting (or not acting if you so choose) on them. You may never feel completely ready to move forward with testing. But you should be at a point where receiving the result will empower you rather than making you feel less in control. Results could be helpful in letting you decide whether or not you want preventive surgery. But they could also be useful in helping you feel confident about taking the birth control pill, or getting breast MRIs and mammograms in your 20s, and could also help you get insurance coverage for those tests since you will want to start screening in your 20s regardless (based on there being a BRCA mutation identified in your family).

    Regarding insurance, increased surveillance and preventive surgery/reconstruction are usually covered under most health insurance plans. You may want to get details about your plan specifically to make sure you have coverage, as well as find out what your coverage benefit is (i.e. what percentage of the procedures is covered). Sometimes finances play a role in what women eventually decide to do. e.g. both surgery and increased screening are covered, but a patient may still be responsible for 20% of the cost. Therefore a woman may choose to pay the one-time higher cost of surgery since it ends up being less than the ongoing cost of screening. This is just one example though, and many women have both screening and surgery covered with minimal out of pocket costs. So you should get more information about your plan before making decisions.

    There is both state and federal legislation protecting individuals from genetic discrimination from health plans and employers. You can find more information about this at http://www.ginahelp.org/. Breast cancer should not be considered a pre-existing condition even if you know you are at high risk.

    If you are seeking more information about your options and how they relate to your specific scenario, it may be helpful to meet with a genetic counselor. You can have genetic counseling via telephone through InformedDNA, or you can find a genetic counselor in your area through the NSGC search tool.

  • I have a strong history of breast cancer (EVERY female on my mother’s side has had or currently has breast cancer). I have had two lumpectomies, both stage 0. My mother had ovarian cancer at age 43 and survived. She is now 66. Her sisters had hysterectomies in their early 40′s. I am BRCA 1/2 NEGATIVE. I have a gut level feeling that there is some other genetic mutation that is in my family that predisposes us to these types of cancers. I have frequent monitoring of of both breast and ovaries, but realize that the ovarian cancer piece is difficult to detect. I am done having a family and am leaning towards having my ovaries removed along with a hysterectomy. My biggest hesitation to undergo this procedure is waking up in surgical menopause. However, I would rather deal with menopause than ovarian cancer….any advice would be appreciated.

    Do you happen to know what type of BRCA testing you had? The Comprehensive BRACAnalysis typically does full sequencing of the BRCA1 and BRCA2 genes and a 5-site rearrangement panel of BRCA1. However, we know there are a small percentage of BRCA1/2 mutations that are missed by this test, but would be detected by an additional test called BART (BRCA All Rearrangement Test).

    Myriad labs runs BART automatically for women diagnosed with breast cancer who have 2 or more relatives with with breast cancer under age 50 or ovarian cancer at any age. Based on your message, it sounds like BART might not have been run automatically for you, and your doctor/genetic counselor would have had to request it separately.

    You can look at your copy of your results to determine what testing you had. If it says “full sequencing” and “full rearrangement” testing for both BRCA1 and BRCA2, then you had the most comprehensive testing available. If you have not had BART, you have the option of getting BART testing to see if that reveals a mutation that was missed with the regular test. If a mutation is found, hopefully that will help make your decisions more clear cut regarding how to manage your ovarian cancer risk. You can ask your doctor or genetic counselor to help you decide whether or not BART is right for you and/or to assist you with ordering it. If you would like, genetic counselors at InformedDNA would be happy to assist you with this as well. You can call 800.975.4819 or visit www.informeddna.com to schedule an appointment.

    I am not able to give you definitive recommendations without performing a full genetics evaluation and consultation, but in general we would agree that women with your family history likely have an undetected mutation that affects both breast and ovarian cancer risk. Therefore making the same choices as if you were BRCA positive and considering having your ovaries removed is reasonable, especially since you have had breast cancer yourself and your mother was only age 43 when she was diagnosed with ovarian cancer.

    I encourage you to discuss this further with your doctor or genetic counselor, and to undergo a comprehensive genetics evaluation if you have not done so already. You should also take advantage of the Bright Pink message boards, or sign up for a Pink Pal, to talk to other women who have had their ovaries removed or have faced the same decisions you’re facing. Hearing about their experiences is often valuable in helping you make your own decisions. Additionally, Fox Chase has an excellent resource on making decisions about risk-reducing surgery that they provide free of charge.

  • My sister was diagnosed with inflammatory breast cancer two years ago. My maternal great grandmother had breast cancer. I’ve been told that inflammatory breast cancer is not genetic and I’m not at an increased risk. Is that true? What about my daughter? Her grandma on her fathers side has breast cancer. Does that increase her risk, or does it only follow the mother?

    While most women with breast cancer don’t have any family history of the disease, approximately 30% of breast cancer patients do have a family history of cancer, and 5-10% of all women with breast cancer have a hereditary/genetic form of the disease. This applies to women with inflammatory breast cancer, and when assessing risk for hereditary cancer we treat women with inflammatory breast cancer the same as other women with non-inflammatory breast cancer.

    Although I’m not able to give you specific risk information without doing formal genetic counseling, women with a sister and other family history of breast cancer (regardless of whether it’s inflammatory or not) are at increased risk of developing breast cancer themselves. If your sister was diagnosed under age 50, both you and your sister may benefit from a genetic risk assessment according to national guidelines. Talk to a genetic counselor or your doctor about what your specific risk may be and what options you have to try to catch cancer early or prevent it altogether. Those who are interested in genetic counseling can schedule a telephone appointment through InformedDNA (www.informedDNA.com or 800-975-4819) or can find a genetic counselor in their local area through the National Society of Genetic Counselors or the National Cancer Institute.

    A common myth is that breast cancer risk is passed on only through the mother, but in fact risk can come from either mom’s or dad’s side of the family. Your daughter’s breast cancer risk will be affected both by your family history and her dad’s family history. However, when looking at risk for hereditary cancer, each side of the family is evaluated separately, and the risks are not added together. In short, having breast cancer on both mom’s and dad’s side of the family isn’t necessarily worse than having it on only one side of the family.

  • Three generations of women in my family have been diagnosed with breast cancer, my great-grandmother, grandmother and maternal aunt (my mother’s identical twin sister). None of them have died from this disease and all are doing well. All were diagnosed after age 50 and my aunt was negative for BRCA gene testing. Should I be getting early mammograms or worry about increased risk for breast/ovarian cancer?

    Based on your family history, I can certainly understand your interest in getting more information your risk and management options. I hope you will find this information helpful.

    It is important to know that most breast cancer is not hereditary, meaning that it is not due to a gene mutation running through the family. Only about 10% of all breast cancer is hereditary. One way to assess that is to have BRCA testing done in a family, as your aunt did. However, negative BRCA test results do not rule out a hereditary component to the breast cancer in a family.

    Although your family has already had genetic testing, I would encourage you to consider meeting with a genetic counselor to discuss the family history and your aunt’s test results. There are a few things that the genetic counselor could help you with. One would be to look at your aunt’s test results and determine if the correct testing was done. Most people have what is known as Comprehensive BRACAnalysis. However, we know that there are a small percentage of BRCA1/2 mutations that are missed by this test, but would be detected by an additional test called BART (BRCA All Rearrangement Test). This test may be appropriate for your family. In addition, in rare cases, there are other genes that can be associated with hereditary breast cancer so a genetic counselor could also determine if there was any other genetic testing indicated for your family as well as help determine which family member is the most appropriate relative to undergo genetic testing.

    In terms of risk and screening options, I am not able to give you definitive recommendations without performing a full genetics evaluation and consultation, but in general we would agree that women with your family history likely have an increased breast cancer risk. Therefore it would be important to discuss screening and risk reduction options with your gynecologist and genetic counselor. They can provide you with more specific cancer risk estimates and appropriate recommendations based on those risks. Women with a strong family history of breast cancer may be recommended to start screening earlier, undergo additional screening tests, or have more frequent screening.

    Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

  • I am a 9 year breast cancer survivor, first diagnosed at age 40 with no prior family history. I just tested positive for BRCA1 after my sister got diagnosed with ovarian cancer and got tested. I have 2 questions: 1. When would you recommended my 19 year old get tested/counseled? She is in her 2nd year of college. Is there a recommended age she start surveillance? Should I wait for her to be ready to proceed with whatever she feels she needs to do, or do I proactively get her an appt with a counselor? 2. We got the gene from our paternal side, but my dad is not close to his family and we haven’t had any contact with our cousins or aunts for 25 years or so. How would you suggest telling our relatives? I feel compelled to warn them of the possibilities, but it seems so strange to reach out to them after so many years. Thank you so much!

    Finding out you are BRCA positive is often overwhelming, and I’m glad you’ve found Bright Pink to get support as you and your family learn more about your risks and opportunities for prevention. That is great that you are figuring out the best way to empower your relatives to protect themselves from cancer.

    The standard recommendations are that women with BRCA mutations start breast screening at age 25 or ~10 years younger than the youngest diagnosis of breast cancer in the family. So your daughter should consider breast cancer screening and prevention by at least age 25, but she can certainly undergo genetic counseling and testing at a younger age if she is ready to learn her genetic status. You have already started the process by telling her your genetic status and opening the door for conversation. Unless there were breast cancers in your family diagnosed younger than age 35, your daughter does not need to undergo genetic counseling immediately if the process is overwhelming.

    It’s important for her to start getting support now, and learning about what this risk means at her own pace. Getting involved in Bright Pink is an excellent way for her to get in touch with other young women who have been in her situation. Our Pink Pal program can partner her with another young woman with a similar background, and depending on her location, she may be able to meet others through our outreach groups as well. When she is ready to learn more details about her risk and cancer prevention options, she can meet with a genetic counselor to learn more about genetic testing, ways she can prevent a cancer diagnosis, and how this will affect different aspects of her life. You can find more discussion about when it’s right to test on the Bright Pink Blog.

    Regarding your paternal relatives, many people who do not feel comfortable calling their relatives may send out a family letter with the information instead. Some choose to send a double letter in order to preserve their relatives’ right to choose whether or not they want to learn about this information. For example, details about your diagnosis, genetic test results, and how they can find a genetic counselor are placed in a sealed envelope. That sealed envelope is included with another letter that informs the reader that their relative has obtained health information that is relevant to the whole family, and they can open up the sealed envelope if they would like to hear more details. Your genetic counselor may have family letter templates they can share with you to help spread the word to other family members.

    Any relatives who are interested in genetic counseling can schedule a telephone appointment through InformedDNA (www.informedDNA.com or 800-975-4819) or can find a genetic counselor in their local area through the National Society of Genetic Counselors or the National Cancer Institute.

  • My mother is a breast cancer survivor and my daughter recently had a normal breast biopsy. It was suggested that my mother undergo the BRCA gene test to provide the women in our family with useful information. Where can my mother have this test done?

    To discuss the option of genetic testing, I would suggest that your mother consider meeting with a genetic counselor. A genetic counselor can help her figure out if genetic testing is indicated for your family, fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret the results, and give your family cancer screening and prevention recommendations that incorporate both the family history and any genetic testing that is recommended. Genetic counseling is available via telephone through Informed Medical Decisions (www.informeddna.com or 800-975-4819), or you can search for a genetic counselor in your local area.

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