BRCA Genetics In The News: Ask The Expert

BRCA Genetics In The News: Ask The Expert

During our recent webinar, “BRCA Genetics In The News: What Do I Do Next?,” we received a variety of questions. Peggy Cottrell, MS, CGC, Genetics Program Coordinator, is pleased to answer your questions and concerns below. If you have additional questions, please contact us at 866.474.2774.

  1. Are just the Jewish BRCA mutations checked or are all the BRCA mutations checked when you get genetic testing?

It depends on the type of testing that is done.  Sometimes, just the founder mutations are tested, other times all of BRCA1 and BRCA2 are checked, and sometimes a panel is used that tests for multiple genes.  The appropriate test will be chosen by a genetic counselor.  If you are concerned that your testing may have been inadequate, please be in touch about your specific information.

  1. What are your thoughts on direct to consumer at home genetic testing?

Direct to consumer testing has pros and cons.  Some people will make better lifestyle choices after finding out that they have an increased hereditary risk.  However, the testing offered may only account for a fraction of the possible genetic risk factors.  Often, lifestyle factors may have a much bigger effect than genetics on the development of disease.  I also believe that there is benefit to receiving genetic counseling along with genetic testing which does not necessarily happen with direct to consumer at home testing. This counseling provides the opportunity to better understand your test results, recommendations, and next steps. You can call Sharsheret to speak with me for a genetics consultation. You can also find a genetic counselor in your area by visiting

  1. What information for risk does the new Myriad testing with SNP’s give us for ovarian cancer?

RiskScore SNP testing is for breast cancer risk only, so it doesn’t give information about ovarian cancer risk.  Studies have shown that a woman with no family history of ovarian cancer, only breast cancer, and negative genetic results, is unlikely to be at an increased risk for ovarian cancer.

  1. How do you assess risk with Ashkenazi survivor families who have very little family history?

It can be hard to assess risk in small families.  If you are concerned about the possibility of being a carrier because of a small family for any reason, please be in touch with your specific information.  It may be possible to get inexpensive testing done even if testing is not covered by insurance.

  1. How precise does family history have to be in order to help determine what genetic testing should be done? I am not clear on my full family history, and I would rather not alert my family in advance that I am considering testing.

It can be hard to get precise information for many reasons.  Perhaps you can ask about family history without mentioning the fact that you are thinking about testing?  When there is a lot of uncertainty, I sometimes suggest that the patient consider a larger panel that looks at many genes in case important family history information is missing.  Once a person qualifies for a genetic test, it doesn’t usually cost more to do a more extensive panel.  However, it is always best to try to get as much information as possible in order to choose the most appropriate test.

  1. How do you recommend people handle the emotional aspect of knowing they carry a BRCA mutation? I am BRCA2 positive and really struggle with feelings of hopelessness, even though I am planning prophylactic surgeries. I want to be positive for myself and my family, but sometimes this feels like a death sentence.

Many people with hereditary cancer benefit from more than just genetic counseling.  It may be a good idea to ask for a referral to a psychologist or social worker if adjusting to being a carrier seems difficult.

  1. Who do you recommend should remove the ovaries and fallopian tubes? Do you recommend a certain specialist or can an OBGYN do it?  Also, how often do you recommend breasts be checked once a mastectomy has been completed?  Do implants need to be changed out after a certain number of years?

Generally, it is recommended to have the removal of the ovaries and fallopian tubes done by a gynecologic oncologist.  This is a gynecologist with a specialty in cancer.  There is a higher chance in a mutation carrier that cancer might already be developing.  Gynecologic oncologists follow surgical procedures that make sure that any cancer that is already present will be detected and treated correctly.  Once a bilateral mastectomy is completed, national guidelines do not recommend any regular imaging. However, it would be important to continue to get a breast exam by a physician at least once a year.  Recommendations may vary depending on whether the person was diagnosed with cancer or had prophylactic surgery.  I have never heard about changing implants after a certain number of years; it would be best to ask a breast or plastic surgeon.

  1. I am BRCA2+ and had peritoneal cancer, with extensive family history on my father’s side. I was tested in 2014. Is there a reason to get additional testing?

In general, once someone is identified as a carrier of a BRCA1 or BRCA2 mutation, they don’t need to have follow-up testing done.  Most other genes that might be identified wouldn’t change the medical management.  The exception would be if there is significant cancer in the family that cannot be explained by a BRCA mutation.  If you have concerns about this, you should reach out and speak with me, or contact your genetic counselor for an answer.

  1. I tested positive for BRCA2. Should my brother be tested? If he tests positive, what type of services/additional testing should he pursue? He is 48 years old and has two sons.

Men may be at an increased risk for cancer as a result of carrying a BRCA2 mutation, and men are just as likely as women to carry the BRCA mutation.  Those carrying a BRCA mutation have a higher risk for pancreatic, prostate and breast cancer.  It is reasonable to offer testing to men who have a 50% risk of being carriers.

  1. Is there any relation between the age that a mom gets breast cancer and the age that her daughter might get breast cancer (we are both BRCA2+)?

There is no proven relationship.  The national guidelines recommend beginning screening approximately 10 years younger than the youngest diagnosis of breast cancer in the family.

  1. I am BRCA1 positive and my daughter (age 32) has chosen not to get tested yet. Is it the case that her insurance should cover the heightened screening for breast cancer even if she chooses not to get tested?

Generally, insurance is willing to cover high risk screening for women who are at a 50% risk of carrying a BRCA mutation.  Your daughter will need to check with her specific insurance to find out the best way to arrange this kind of screening.

  1. I am BRCA1+ and have yearly breast MRIs and yearly mammograms with tomosynthesis, however I have never had a breast sonogram. Should this also be a part of my treatment plan?

As a carrier of a BRCA mutation, it is important to have your high risk breast cancer screening managed by a breast specialist.  The best person to do this is a breast surgeon who is willing to take care of high risk patients.  He/she will look at your imaging and let you know if additional screening will be beneficial for you.

  1. My daughter who is BRCA2+ has been advised to have transvaginal ultrasounds every 3 months (in addition to MRIs and breast ultrasounds). Do you think there is a benefit to having transvaginal ultrasounds?

This question depends on the age of your daughter.  National guidelines recommend the removal of the ovaries and fallopian tubes between 40 and 45.  It is reasonable to consider screening with transvaginal ultrasound before the age when the ovaries should be removed.  However, it is important not to rely on this kind of screening.  It may be valuable for your daughter to have a consultation with a gynecologic oncologist to determine the best approach.

  1. I had a breast mastectomy in 2011 due to a BRCA2+ mutation. What needs to be removed in regards to the ovaries?  Some say the ovaries and fallopian tubes.  What do you suggest?

It is important to remove both the ovaries and fallopian tubes when you carry a BRCA mutation.  Scientists believe that a significant percentage of ovarian cancer begins in the fallopian tubes.

  1. What is the incidence or prevalence of the TP53 mutation in the Italian or Mediterranean populations?

TP53 mutations are relatively rare in all ethnic groups.  There are no definitive numbers, but perhaps 1 in 5000 individuals carry an inherited TP53 mutation.  There may be a founder mutation in Brazil that makes TP53 mutations slightly more common there, but I don’t know of anything in other populations.