Ask-the-Expert Online Conference
The Ask-the-Expert Online Conference Breast Cancer Risk and Your Family featured Terri McHugh, D.O., and Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. answering your questions about genetics and breast cancer, and how your family could be affected.
Editor's Note: This conference took place in March 2008.
Questions from this conference
- Other screening methods for high-risk daughters?
- Genetic testing for sons' sake?
- Test husband? What age for kids?
- Insurance and genetic testing? Consider oophorectomy?
- Breast cancer type hereditary?
- What does the genetic test entail?
- Triple-negative breast cancer genetic?
- Test now for future generations?
- Identify other genes before preventive measures?
- Discrimination concerns for high-risk daughter?
- What genes does Oncotype DX test?
- Ovarian cancer risk and BRCA genes?
- Why aren’t hormone levels tested at diagnosis?
- Genetic testing appropriate for daughter?
- Age to begin mammograms? How often?
- How to go about genetic testing?
- Low cost genetic testing available?
- Should family test if no other history?
- How to research unknown family history?
- What do test results mean?
- When should daughters start screening if mom is positive?
- What is considered high risk?
- New research on genetic testing?
- Preventive options for BRCA1 positive?
- Gene mutations that have not been discovered?
- Environment vs. genetic risk?
- Help to get insurance to cover testing?
- Add MRI to mammogram and BSE?
- Male prostate cancer raises risk for female breast cancer?
- How reliable is genetic testing?
- Any reason to not have genetic testing?
- Should males be concerned about genetic breast cancer risk?
- Question from Sandy Brass: I am almost 18 years out from a single mastectomy of pretty well-established inherited breast cancer. I have three daughters, the oldest now coming into the "subtract 10 years from initial diagnosis" range. Is there anything else that I can do for my girls besides self-breast exams and digital mammograms or ultrasounds?
As a woman who has had breast cancer 18 years go and now has children, looking at your family history you are assuming this is hereditary. If it hasn't been done, you should undergo formal genetic testing to undercover a mutation, either BRCA1 or BRCA2. If that has been done and if you test positive for the gene, then you will want to follow high risk screening guidelines which will be outlined shortly. If you were found to have the mutation, and your daughter doesn't, then your daughter's risk is average or based on the risk of the other side of the family.
The high risk screening guidelines for a woman who has a mutation or has a hereditary predisposition would be starting with monthly breast self-exams starting at 18, annual mammograms and annual breast MRI (ideally alternating every 6 months) from age 25, or 10 years younger than the youngest family member diagnosed, whichever is less. And clinical breast exams twice a year by a physician or nurse practitioner.
- Question from SMer: Though I had no family history of breast cancer, I am now fighting advanced breast cancer. I have no daughters, but I do have two wonderful sons. Since men do get breast cancer, should I undergo genetic testing for their sake?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. My answer would be to refer you for some risk assessment and genetic counseling, so that your entire family pattern could be looked at. It could be valuable for you to have genetic testing, but it should be looked at with a counselor to look at the whole family tree on both sides of the family to have a better chance of uncovering possible mutations. The things that we look for that give us a red flag for being an altered gene that could be passed on to daughters or sons would be earlier than typical age of diagnosis, having breast cancer in both breasts, having breast and ovarian cancer, and looking for other cancers in the family history other than breast cancer, for instance ovarian cancer, pancreatic cancer, prostate cancer, and melanoma. Sometimes, certainly not always, looking at the entire family history of cancer with a trained genetic professional helps us understand much more clearly how likely it is to find a gene that could be passed on to children.
- Terri McHugh Also, a history of male breast cancer and ethnicity, such as Ashkenazi Jewish ancestry.
- Question from JNelling: I was diagnosed about a year ago at age 46. My mother, 78, was just diagnosed and my mother-in-law also had breast cancer. I am thinking that in order to provide any useful information to my children, my husband would have to be tested too. Is this correct? If either of us is positive, at what age should my kids be tested?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It's recommended to meet with a genetics professional to look at the entire family history, and the red flags as discussed earlier. Also, it's important that children make an independent decision about their own personal desire for genetic testing. There isn't a recommended age given by the professionals, but the counselor helps the individual make that decision for themselves.
- Terri McHugh With female children, if there is a hereditary link, ideally we encourage them to consider genetic testing at age 20, or again, 10 years younger than the age of youngest family diagnosis. The purpose of having them tested at that age would be to have them on-target with their breast screening, and if they're not ready to test at that age, to ensure that they are being screened appropriately.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It is not every 20-year-old who is ready to pursue testing. It is a very individual decision.
- Terri McHugh One other consideration with children of mutation carriers, both male and female children, is that in today's world there is the chance for pre-implantation genetic selection. In short, what that means is a woman or couple could choose to have in vitro fertilization and choose the embryos that are not affected with the mutation to be reimplanted. That again is a very individual choice, but something you should be aware of.
- Question from DDF: I had a stage 0 DCIS cancer 2 years ago at age 53. I have a family history of breast cancer, post menopause. My mother's genetic testing was negative. My daughter is 22. Should she or I be tested and when? I am concerned about insurance coverage issues in the future in conjunction with genetic testing. Also, should I consider an oophorectomy? I hear pros and cons.
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It would be important to look at your father's side of the family for any history of cancer. That may make it a reasonable choice for you to have genetic testing because you could have inherited an altered gene from your dad's side.
- Terri McHugh The federal government enacted a law in 2003 for discrimination against genetic testing for group health insurance plans.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Currently at the federal level, through the HIPAA laws, people who are part of a group health insurance plan cannot be discriminated against on the basis of genetic information. If you do not have a group plan, but have personal insurance, then the HIPAA law does not cover you. However, it's important to know that much more comprehensive anti-discrimination legislation is currently in front of Congress with a lot of momentum behind it for passage. Many advocacy groups are working diligently to move that legislation along. Despite the fact we don't have fully comprehensive protection against discrimination, our experience is that we're not seeing people being discriminated against. That's the good news. There are no laws that protect you against discrimination for life insurance plans, although we're not seeing discrimination in that area either.
- Terri McHugh Often with life insurance plans, your own family history of cancer may impact those premiums. In regards to the oophorectomy, the family history is important on both your mother's and father's side to see what other cancers may be present in the family, such as ovarian or reported cancer in the abdomen of unknown source. In the absence of any family history of ovarian cancer, and in a family that has only a presence of breast cancer, several small studies have shown the risk of ovarian cancer is not any greater than that of the general population in these women. Noah Kauff is the author of one such study, appearing in the Journal of the National Cancer Institute, September 2005.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. We have a book that may help in the decision making of oophorectomy from the Fox Chase Cancer Center. If you send an email to firstname.lastname@example.org and request the book, we'd be happy to send it out to you. It was designed to assist women in thinking through all of the information that should be considered regarding pros and cons of elective ovary removal. I think it might be helpful for you.
- Question from Lindalou: When breast cancer does run in the family, are they the same types - lobular vs. ductal with similar factors?
- Answers - Terri McHugh No, they do not have to be the same pathology and have the same hormone receptors.
- Question from SCole: My sister, my grandmother, and one aunt have died from breast cancer. I have had a non-cancerous lump removed. Should I have my girls (ages 16 and 14) tested? What does the genetic test entail?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Genetic testing is always more effective or informative if you start with the person affected with cancer first. So before deciding if your daughters should be tested, if there is a living affected relative with cancer, that would be the best person to test if they are willing. The process should involve a counseling session with a genetics professional. That could be a doctor, genetic counselor, or nurse with special training who can explain all of the risks and benefits and work with you to understand payment options and insurance coverage. The test is typically done by a commercial laboratory, called Myriad Genetics. One tube of blood is drawn and sent to that laboratory. Many insurance companies cover the testing, if you meet family history criteria established by the insurance company.
- Terri McHugh The typical length of time for test results to be received is 3 weeks.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. In some academic centers, the genetic testing can also be done in the context of a research study.
- Question from PattyS: My mom had breast cancer when she was 65. I was diagnosed with triple-negative breast cancer at the age of 50. I'm now 4 years out and doing great. Should I get genetic testing? There is no other breast cancer in our family. I have 2 daughters and am concerned about them. Do you think there are subtypes within triple-negative breast cancer? Is all triple-negative breast cancer genetic?
- Answers - Terri McHugh You also need appropriate genetic counseling, and should be questioned about your family history of other cancers. Genetic testing is appropriate for you. We do not know if all triple-negative cancers are linked to a genetic mutation.
- Question from LadyD: I just had a new baby granddaughter and I am a breast cancer survivor. I am wondering if I should have the BRCA test done for the future. I am the grandmother on the father's side. Thank you for any information.
- Answers - Terri McHugh Genetic testing may be appropriate for you to further outline breast cancer risks for your granddaughter. It would also be important to look at your granddaughter's maternal lineage and ethnicity on both sides.
- Question from CHodnet: I was diagnosed at 39. An aunt and several cousins on my maternal side were also diagnosed young, several premenopausal. I tested negative for BRCA, but the counselor said there could be an undetected genetic component, and it was cost prohibitive to test for every possibility. What measures should I consider (prophylactic ovary/breast removal) without knowing if there is a genetic component?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. We do see quite a number of families that have features of a hereditary syndrome, particularly young ages of diagnosis as in your family, and there is a limitation to the current research. But chances are good that in the future, we will identify other genes that may be the cause of the cancers in your family. Until that time, the decision for medical management such as ovary removal is best made with a trusted doctor.
- Question from Hambro: My sister and I have tested positive for BRCA1 mutation and have been the only two so far, since no one else has been tested. I have a daughter who is turning 25. When is the best time for my daughter to receive genetic testing? She has limited health insurance and I'm concerned about discrimination if she is positive and seeking future health insurances.
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Again, it would be wise for your daughter to meet for individual counseling to make this decision for herself as far as timing. We can refer you to the previous question about the status of legislation to protect against discrimination.
- Question from CindyM: How do the genes tested in the MammaPrint and Oncotype DX differ from the BRCA1 and BRCA2 genes?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Oncotype DX is a panel of 21 genes that indicate the recurrence potential of a breast tumor. It is used in particular cases of breast cancer, particularly early stage breast cancer, to help decide if women would benefit from chemotherapy or not. These genes are different than the BRCA1 and BRCA2 genes, which are tumor suppressor genes that are passed through families and predisposed to the development of breast cancer.
- Question from MaryMcN: Is there a link between having the BRCA1 or 2 gene and a higher risk of developing ovarian cancer as well?
- Answers - Terri McHugh Absolutely. The risk for ovarian cancer with BRCA1 carriers can be as high as 54%. The risk for BRCA2 carriers can be as high as 27% during one’s lifetime.
- Question from Ev: Hi, why are we who have breast cancer not tested at the time of diagnosis for estrogen, progesterone, and testosterone levels?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. The typical tumor is analyzed for estrogen receptor, progesterone receptor, and HER2. Pathologists comment on lymphovascular invasion and the grade of tumor.
- Question from Bgirl: I'm 25 years old and my mother was diagnosed with HER-2 positive breast cancer at the age of 58. Would you recommend a BRCA test for me? There is history of other cancers in my extended family as well.
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It is most informative for the person affected with breast cancer in the family to have the genetic testing first. Perhaps you and your mother would want to seek risk assessment counseling together to explore this.
- Terri McHugh If your mother is unwilling to have genetic counseling and testing, then genetic testing may be appropriate for you.
- Question from Anne: I was diagnosed with breast cancer at age 45. I have a 20-year-old daughter. At what age should she start having regular mammograms and at what frequency (e.g. annual)?
- Answers - Terri McHugh It is difficult to answer this question in the absence of other family history. If you are the only family member with breast cancer, then your daughter should have a baseline mammogram at age 30 and annual to begin at age 35. Personal factors in your daughter such as family history may alter these recommendations.
- Question from Kay-3: How do we go about getting tested for our daughters' sakes?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. You can go to the website through the National Cancer Institute, with a listing of genetics professionals throughout the country. Another website is that of the National Society of Genetic Counselors, which has a list of professionals that are part of that organization.
- Question from TammyD: My sister did not think it was necessary to have the gene testing done because she had a double mastectomy. She can not afford to have the testing done because of the huge expenses she has already incurred. I would like to know if she has that gene so that I could get tested and know where my health risks are. Do you know of an organization that provides testing for a low cost?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. There is an assistance program through Myriad Genetics labs, which is the commercial testing. Another option is participating in a research test that could offer testing. This would most likely be found at an academic institution that does genetic research.
- Question from JennieD: I have an 82-year-old mother and sisters who are 56, 54, and 48. I was diagnosed at age 49 with IDC. I was very healthy with no risk factors and no family history of breast cancer. Now that I've had breast cancer, is it possible that I have the BRCA gene and that my sisters and mother might also? Should we have genetic testing or just continue to be diligent with our mammograms and breast self-exams?
- Answers - Terri McHugh Formal risk assessment with a certified counselor would help determine if genetic testing would be appropriate for you. Your paternal family history is important in addition to the information you have offered in making this assessment.
- Question from Just Me: How would one proceed to research breast cancer in a family in generations past? For instance, my mom does not know if her mom or her grandmother had breast cancer. Is there any way I can find out that you know of?
- Answers - Terri McHugh Researching the family genealogy, and at times death certificates, may be useful, as the cause of death should be listed.
I tested positive for a mutation in the BRCA1 gene, exon 11, 1323G>T, expected to produce inherited breast cancer phenotype. What does that mean?
- Answers - Terri McHugh The mutation that you were found to have inherited has significant lifetime risk for both breast and ovarian cancers.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. I'm sure the genetic counselor could help explain this in more detail, if it wasn't done at the time you received your results.
- Terri McHugh Additionally, they will help outline medical management.
- Question from CathyL: I am positive for the BRCA1 mutation. I know the genetic counselors say that my daughters shouldn't probably be tested for the mutation until at least 25 years of age, but I want to know if it's appropriate to ask for a baseline MRI of their breasts before that age. What age should they begin screening? I was diagnosed at 46, but another relative with the mutation died at age 36.
- Answers - Terri McHugh With this family history, it's appropriate to obtain a baseline breast MRI at age 25, unless symptoms warrant sooner, or if a girl has breast reduction surgery, in which case a postoperative mammogram and breast MRI should be obtained.
- Question from KAllen: My mom was diagnosed with early-stage breast cancer at the age of 78. Does that make me high-risk? I am 43 years old and have been having annual mammograms since I was 32 years old.
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Any family history of cancer gives you some increased risk, but just how high that risk is could be better understood if you have a complete analysis of your family history on both sides of the family.
- Question from Website Question: What new research is being done in the whole field of genetic testing for breast cancer?
- Answers - Terri McHugh There is ongoing research to identify other genes or combinations of genes that increase risk of breast cancer.
Carol Cherry, M.S.N., R.N., A.P.R.N., B.C.
There's an area of research looking at what is called genetic modifier genes (genes that would work in conjunction with those genes we have already identified like BRCA1 and BRCA2). They may help us understand why certain people are more at risk for developing breast cancer, whereas others are more at risk for developing ovarian cancer, as well as the penetrance of cancer in other family members.
There is an excellent resource for families who carry mutations in the BRCA1 and BRCA2 genes, and that is found through a website called Facing Our Risk of Cancer Empowered, or FORCE, and the website is www.facingourrisk.org. FORCE does a great job of providing education and support to families affected with hereditary breast and ovarian cancer. Most of their work is done online, but they also sponsor annual conferences. The next one is coming up in May 16-17 in Tampa, Florida. There is also a local Philadelphia-area chapter of FORCE that meets for education and support
- Question from Bugaloo: I have the BRCA1 gene and got breast cancer 2 months later (also had it 18 years ago). My daughter, age 33, also tested positive for BRCA1 gene. I've had a double mastectomy and ovaries removed. What would you recommend she do as a preventative measure?
- Answers - Terri McHugh Your daughter should meet with medical professionals to discuss the options for screening with early detection and risk reduction surgery. In the setting of a BRCA1 mutation, risk reduction bilateral oophorectomy is recommended after completion of childbearing. Certainly this does place a woman in surgical menopause and its associated symptoms. It has been shown that the earlier oophorectomy is performed in a BRCA1 mutation carrier, the greater the risk reduction for breast cancer.
- Question from EHad: I am of Ashkenazi Jewish descent and surprised to learn that I am BRCA1/BRCA2 negative. My genetic counselor advises that my three daughters and one son are not at greater risk, and that I have no increased risk of ovarian cancer. How does my status impact my children? Are there other gene mutations for which we cannot test, or mutations not yet discovered?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Knowing which genes to test for is based on assessment of the complete family history of cancer. If there are other cancers other than breast in the family, there may be another syndrome for which testing is available. But this would only be more fully clarified if you seek counseling.
- Question from BerniceT: Although science has only discovered BRCA1 and BRCA2, is it likely that all breast cancers are caused by an as-yet-undiscovered gene mutation? Or does environment alone cause breast cancer? I tested negative for 1 and 2, but still wonder if it was caused by some other unknown defective gene. I want to know what advice to give my daughter once she has grown up.
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. I think that we believe most cancers come from a series of events that are gene and environment-interaction-based. Lots of research is taking place to more fully understand these complex events. Depending on the age of your daughter now, by the time she grows up, we may have a much better understanding of all the factors that lead to development of cancer.
- Question from Unnell: My insurance company has denied my request for BRCA testing, even though I have a family history (my mom and a first cousin on my maternal side). The out-of-pocket cost of the testing is over $3,000! Is there anything I can say or do that will make the insurance company cover my testing? Would you, if you were me, proceed with the testing regardless of the insurance company?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It's hard to answer your question without knowing all the details of your particular situation. Your decision to proceed with testing is really a personal one so what I would do is not that relevant. Have you worked with a genetic counselor who has helped you understand the requirements of your insurance company for coverage? The reason I say this is because sometimes counselors can write letters of medical necessity on your behalf to the companies to request coverage. Sometimes we're successful and sometimes we're not.
- Terri McHugh An alternative, if insurance does deny coverage after meeting with a genetic counselor, is to test a relative who has had cancer. That might be most beneficial.
- Question from Maureen: I am a 53-year-old female with calculated risk 3.8% (sister and mother had breast cancer). Is there any benefit in adding MRI to annual mammogram and monthly self-exam?
- Answers - Terri McHugh Statistical models have been created to estimate a woman's chance of developing breast cancer based on various personal and/or family history factors. Having a calculated risk of breast cancer of 3.8% [the risk of developing breast cancer in the next 5 years], I assume you were using the Gail Risk Assessment Model. (A value equal to or greater than 1.7% places a woman in the high-risk category for breast cancer using the Gail model.) Your lifetime risk of developing breast cancer is at least 26%. Breast screening recommendations for women in this high-risk category include: monthly self-breast examination starting by age 18, clinical breast examination performed by a physician every 6 months, and annual mammogram. The National Comprehensive Cancer Network (NCCN) recommends annual breast MRI in addition to annual mammogram, ideally alternating every 6 months. Additionally, chemoprevention with tamoxifen should be discussed with your treating physician(s), as it has been shown to reduce the risk of breast cancer in high-risk women by almost 50%.
- Question from Sandefeet: Can a male with prostate cancer raise risks for female family members for breast cancer?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Not in every case, but in some families where there is breast or breast and ovarian cancer, we do find males with prostate cancer. If we see a man in such a family with an early onset of prostate cancer, i.e., in 40s or 50s, which is not a typical age of diagnosis, we would be suspicious of a hereditary syndrome.
- Terri McHugh If there was testing in such a family and altered BRCA gene was found, then yes, it would increase the risk of breast and ovarian cancers.
- Question from Racine: How reliable is genetic testing? Where should it be done? How do I find a good genetic counselor?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. We've provided a reference to finding genetic counselors earlier in the chat, as well as labs for commercial testing and/or research.
- Terri McHugh The likelihood of having a false positive or false negative test is very low.
- Question from Bella: Are there good reasons for NOT having genetic testing when there is a family history? Are there instances when you might advise not to be tested?
- Answers - Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. Again, it's a very personal decision that should be made after looking at all the risks, benefits, and limitations. In my experience, we do not typically advise against it.
- Terri McHugh Most centers have support networks which patients can have access to a social worker or be connected with services such as Facing Our Risk.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. It is important that the person being tested provide informed consent, so if there is a physical or emotional or educational reason why the person does not understand the process it would be not advised to proceed with the testing.
- Question from WillRoth: I am a male who has had breast cancer. I have no children, but should my brother be concerned about his boys?
- Answers - Terri McHugh A male with breast cancer has a 20% chance of having a BRCA mutation. Genetic testing would be indicated for you, and if you are found to have the mutation, then other family members can make decisions regarding testing.
- Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. I would strongly recommend to families who are considering genetic testing to seek out counseling as part of your decision making process. We've seen problems with a person being tested without fully understanding the process, and then having to pick up the pieces, so to speak, afterwards. I'd like to spare people that difficulty by having the counseling they deserve up front.
- Terri McHugh When genetic testing is performed, it is also extremely important that the patients understand their breast cancer risk. Whether that risk be that of a mutation carrier, or one that is based on a family history in the absence of a mutation, it is important that these individuals are guided and have the appropriate screening and potentially risk reduction surgeries performed.