BRCA1

I love taking care of entire familes. It gives me the opportunity to know the pertinent medical history of not just the patient, but his or her relatives too. It introduces me to the support system (or failure thereof), the psychosocial environment and allows me to effect changes that benefit everyone in the home (like in diet, smoking habits and such). Sometimes though, while the opportunities to care for the whole family are beneficial, they are not joyful.

I have one such somewhat disjointed family in my practice. I take care of 3 generations of women -- a grandmother, her young daughter and that daughter's toddler. recently, grandmother -- a somewhat young lady in her mid-40s found a lump in her breast. We got the biopsy and it was positive for cancer. Because of her age, we checked her for the dreaded BRCA1 mutation. She was positive. This means that her daughter and grand-daughter are at increased risk too. Deleterious mutations in the BRCA1 gene may confer as much as an 87% risk of breast cancer and a 44% risk of ovarian cancer by age 70 in women (Lancet 343: 692-695, 1994). This also confers a 20% risk of a second breast cancer within 5 years of the first and a 10-fold increase in the risk of subsequent ovarian cancer. Her daughter and grand-daughter have a one-in-two chance of having this mutation

This is crushing news for these 3 generations of women. Recommendations go even as far as prophylactic bilateral mastectomies (removal of both breast completely to prevent developing breast cancer. The younger women will need yearly mammogram and/or breast MRIs from age 25 upwards.