Choices for BRCA1 and BRCA2 carriers
It is a very difficult and complicated and unclear set of choices facing women who test positive for BRCA1 or BRCA2 gene mutations. In my practice, I meet often with women who fit this profile and who have already been diagnosed with either breast or ovarian (or, occasionally, both) cancers. Most proceed quite quickly with an oophrectomy (having ovaries removed) because of the difficulties associated with catching ovarian cancer at an early stage. Young women who have not finished having children obviously find this a more painful decision and may opt to wait a few years until their families are complete. A decision about prophylactic mastectomies is usually much harder. Although an oopherectomy signals a surgical menopause, ovaries are not visible. Losing both breasts, with or without reconstruction, and with or without really good cosmetic results from reconstruction, is very visible and stirs up many psychological and sexual issues.
I am not writing today about those concerns, but about the difficulty of making a decision. One of the real difficulties is that we have statistics, but it is impossible to predict the future for any one women. There no doubt are women who have bilateral mastectomies who would never have developed breast cancer. On the other side, there are women who delay the surgery and then do develop a cancer.
A recent article in the NCI Cancer Bulletin nicely summarizes this decision process and suggests some ways to think about choices. Here is a quote and then a link to read more:
Helping Breast Cancer Gene Mutation Carriers Weigh Prevention Choices
More than 300,000 women in the United States have
defects in one of two DNA repair genes known as breast
cancer susceptibility genes 1 and 2 (BRCA1 1 and
BRCA2 2). Since the mid-1990s, when work by Dr.
Mary-Claire King and others helped to uncover the
significance of harmful mutations 3 in genes located on
chromosomes 17 and 13, dozens of studies in the United
States and abroad have confirmed that women who carry
specific BRCA1 and BRCA2 mutations face a much
higher risk of some cancers, including an approximately
60 percent lifetime risk of breast cancer 4 and a 15 to 40
percent lifetime risk of ovarian cancer 5.
"The real question becomes: What can women do about
it, and how can we best help them understand and cope
with their elevated risk?" said Dr. Beth Karlan, director
of the Women's Cancer Research Institute and Division
of Gynecologic Oncology at Cedars-Sinai Medical
Center and professor of obstetrics and gynecology at
UCLA's David Geffen School of Medicine. "In many
cases, women feel as if they have to act, but they may
not fully understand the potential impact of the
preventive measures that we know will lower that risk."