By: Steve K.
I have been actively posting on the TNBC Foundation website for the last 18 months, and I can tell you, that often, a woman has come on the board and said e.g. “I am 36 years old with triple-negative-breast-cancer and had a lumpectomy, followed by chemotherapy and six and a half weeks of radiotherapy.” There is, all too often, no mention of seeing a Certified Genetic Counselor or getting tested for the BRCA mutation. Six years ago, my daughter was such a woman. Although she was diagnosed with breast cancer at a major cancer center her Breast Surgical Oncologist (BSO) made no mention of genetic counseling or the BRCA mutation even though my daughter met all of the hospital’s guidelines for genetic counseling/testing as she was 36 with TNBC, Ashkenazi and had a profound family history of early-onset breast/ovarian cancer on her dad’s (me) side.
As was suggested to her by the BSO she had a quadrantectomy. Basically the quadrant of her breast below her left nipple was removed. It was further recommended that she have four months of chemotherapy followed by 6.5 weeks of radiation therapy. At the time I was on the board of a cancer center and I spoke to the CEO about my daughter’s experience. He strongly suggested that she get tested for the BRCA mutation. She tested BRCA1+ and I tested positive as well. At my daughter’s request, soon after she finished her chemotherapy she asked me to try to find out what significance the BRCA mutation had for her. Five BRCA experts told me the same thing….my daughter was at a high risk for a new primary in her contralateral breast or a recurrence and that she also had a very high risk of getting ovarian cancer.
Armed with this knowledge, and having experienced, what was for her, the devastation of chemotherapy she decided to have risk reducing surgeries. She went back to the same Breast Surgical Oncologist to ask her about having PBMs because of her BRCA mutation the BSO responded “of course, my dear..I understand” and she performed the surgeries. Well, the quadrantectomy compromised the cosmetic result of her PBM. They had to stretch her skin on her left side and the result has been some puckering.
If everything had been explained to more daughter, originally, I think she may have chosen to have bi-lateral mastectomies as her first choice. To be honest, she may have still opted for a quadrantectomy and perhaps it was the experience of the chemo that pushed her to more risk-reducing surgeries but she was entitled to the information in our view. Turns out that her BSO was a ‘breast conservationist’ who did not believe in mastectomies. Of course she was entitled to her view but she also, in our view, should have presented all the facts to my daughter.
A study, published in 2009, by Dr. Steve Narod’s group at the University of Toronto recommended that all women, even those with no family history of breast/ovarian cancer, under the age of 40 who had triple-negative-breast cancer should be counseled regarding the BRCA mutation with a suggestion to test. It is also my personal view that every woman with TNBC who has a family history of breast/ovarian history on either parent’s side should receive genetic counseling and possibly test for the BRCA mutation, regardless of how old she is at age of diagnosis
Here is the conclusion from that study-
The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer. 2009 Mar 19;9:86. Young SR, etal., Women’s College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada. email@example.com
CONCLUSION: Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer.
It seems that 80% of the time when a BRCA1+ woman has breast cancer she has triple-negative-breast-cancer. The converse is not true. 80% of women with TNBC are not BRCA1+ but the link seems to be profound.
The other extremely important benefit of women testing for the BRCA mutation is that, hopefully, the information of a positive result is shared with other family members. The information is extremely important to the women in the family, but also to the men, who may not realize that they are at increased risks for prostate, breast and pancreatic cancers, and perhaps melanoma. Increased surveillance may save lives. The BRCA+ male, if properly counseled, will now have the important knowledge that he can pass the mutation on to his children, as I did to my daughter.
In all of this, based on a recent large study, perhaps, what is potentially the most life-saving information is the fact that BRCA+ women are at high risk for ovarian cancer and if they have risk-reducing surgeries they drastically reduce their risk of ovarian and breast cancer (if surgeries are done pre-menopausally) but also may benefit markedly in life expectancy.
Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality
Susan M. Domchek; et al. JAMA. 2010;304(9):967-975.
Conclusions Among a cohort of women with BRCA1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer; risk-reducing salpingo-oophorectomy was associated with a lower risk of ovarian cancer, first diagnosis of breast cancer, all-cause mortality, breast cancer–specific mortality, and ovarian cancer–specific mortality.
Summing up, it is my prayer that more ob/gyns, internists, etc. inform their patients, when appropriate, that genetic counseling should be sought and the breast conservationists should present the whole picture not just their agenda.
A woman told me recently that she was told several years ago…when she was diagnosed with TNBC and asked her physician about mastectomies…His reply, ”that’s unnecessary…why would you want to lose your breasts?” (what woman does?). Turns out she was BRCA1+ and her cancer recurred and she is now in trouble. “Steve, if I knew I was BRCA1+ when this all started I definitely would have had the more extensive risk-reducing surgeries.”
I am not recommending that any woman have any surgery of any kind…I am not a medical professional but I think “standard of care” should include genetic counseling/testing…let women with TNBC hear the story and if they test positive let them decide with the advice of their Breast Medical Oncologist and/or Breast Surgical Oncologist if anything more extensive than a lumpectomy should be considered. Also, a BRCA+ woman should see a gynecologic oncologist to talk about ovarian cancer. In all of this it is essential, in my unprofessional view, that women who are BRCA+ see professionals who are BRCA savvy. They may be tough to find,
but they are out there.
The sad fact is that all too many physicians, in this country, still
-have never heard of the BRCA mutation.
-still are of the mistaken belief that a predisposition to breast/ovarian cancer can only be passed from mother to daughter.
-still tell women that cancer “doesn’t hurt”
I believe that standard of care for a woman with TNBC should in many, many instances, especially with a woman with early onset cancer, include a recommendation to see a Certified Genetic Counselor with a view towards testing.
We all need to become our own advocates…to do research and better understand…That is why I love the TNBC Foundation website. It is there for all of us to learn and support each other.