Women with gene mutation face decision about preventive mastectomy

Angelina Jolie's announcement of her double mastectomy has doctors at Women and Infants Hospital in Providence hopeful.

"It's actually wonderful what's she's doing because although BRCA and these hereditary genes affect such a small number of women, it's so important to identify these women because they have such high risk for the development of cancer," Cancer Risk Assessment and Prevention Program manager Jennifer Scalia Wilber said Tuesday.

Jolie chose to have both of her breasts removed to greatly reduce her risk of getting cancer from 87 percent to 5 percent. Jolie tested positive for the BRCA gene, short for the breast cancer susceptibility gene.

"We follow about 350 BRCA families here locally, so it is affecting a lot of people in our community," Wilber said.

Wilber said it's not that more women are being diagnosed with breast cancer in Rhode Island; it's that doctors know more about the gene and how to test for it.

While it's rare to have the hereditary gene, 50 percent of siblings and offspring of someone who tests positive for the BRCA gene will have it too. The gene makes those affected not only more likely to have cancer, testing positive for the gene makes cancer more difficult to treat should you be diagnosed.

NBC 10 profiled Karen McFetridge in 2008. She tested positive for the gene after her sister passed away from breast cancer. McFetridge shared with us her decision to undergo a hysterectomy and a double mastectomy. The BRCA gene also makes women more susceptible to ovarian cancer.

Wilber said a hysterectomy and double mastectomy are a few of many options.

"Most women choose to forgo a mastectomy if possible and instead get more regular screenings, mammograms and breast ultrasounds every six months," Wilber said.