For most women, the risk of developing
The genes also increase the risk for
BRCA gene testing has been available since the 1990s, but it's only recently that its use has become widespread, said Jesz. She credited the increase to insurance companies now covering the $3,000 test for those designated as high risk — though not for the general population — and to a 2008 federal law that prohibits insurance discrimination against those patients.
The guidelines for genetic testing are set by the National Comprehensive Cancer Network, said Jessa Blount, a certified genetic counselor with
Between one in 100 and 1,000 carry the gene, according to Kimberly Schlesinger, medical director of the Breast Cancer Program at
The testing of children of those carrying the BRCA gene is not recommended until after age 18. For Blount, the standard age is 25, or 10 years younger than the earliest family member diagnosed.
For a significant percentage of breast cancers there's a familial risk that's not attributable to just one gene, she said. In these cases, a detailed family history can help identify a predisposition and also leads to more intensive screening. "The main benefit is in knowing we need to tailor the medical management," she said.
Additional surveillance can include 6-monthly screenings, alternating a
To escape the increased risk of ovarian cancer, for which there is no definitive screening and for which the symptoms can be vague, removal of the ovaries by 40 is typically recommended. "Chemoprevention" is another option. "It's an anti-hormone. If someone tests positive for BRCA and wants to keep their breasts, they can use medication that reduces the risk by 50 percent," said Schlesinger. It's delivered in the form of a daily pill and can be taken for up to five years, but is contraindicated during pregnancy.
Then there's the prophylactic mastectomy that many women choose. "These women may have seen many, many women in their families die from breast cancer. They have often seen terrible suffering," said Jesz.
Mary Beth Gibson, co-founder and executive director of Beyond Boobs!, a Williamsburg-based support group for young breast cancer survivors, was diagnosed seven years ago at age 41. She had a family history, but was only tested for the BRCA gene — she was negative — after her initial diagnosis. She still opted for a double mastectomy. "The monitoring didn't work well. My 41/2-centimeter tumor didn't show up on a mammogram. I didn't want to put myself through six-month anxiety," she said.