US News

Gene mutations early warning signals

Mutations of two genes are linked to a woman’s increased risk of hereditary breast cancer — BRCA1 and BRCA2.

In normal cells, Breast Cancer Susceptibility Genes 1 and 2 are tumor suppressors that keep cell growth in check.

When mutations are inherited in one or both, “they’re not fulfilling their functions, and that increases the risk of breast cancer and ovarian cancer,’’ said Dr. Alvaro Carrascal of the American Cancer Society.

In the United States, about 5 to 10 percent of breast-cancer cases could be associated with the mutation.

It’s more common among certain populations. Women of Ashkenazi Jewish descent have a 1-in-40 chance of carrying a mutated BRCA gene, compared to 1-in-345 for the general population, said Rochelle Shoretz, director of Sharsheret, a Jewish-focused breast-cancer group.

There are blood tests to screen for mutations, but experts advise it only for women with a significant family history of cancer.

Laura Royse, of FORCE (Facing Our Risk of Cancer Empowered), says figure out when to start being tested by taking the age of the youngest person in your family history who had the cancer and subtract 10 years.

Women with a very high risk may opt for a preventive double mastectomy, as Angelina Jolie did.

There are also non-surgical options to lower risk. They include close monitoring to boost early detection or the use of medications such as Tamoxifen.

About 30,000 to 35,000 US patients a year have bilateral mastectomies, according to Millennium Research Group. That includes people diagnosed with breast cancer as well as those doing it as a preventive measure.