Time to Test for Another Breast Cancer Gene? — Physician’s First Watch

Medical News |
August 7, 2014

Time to Test for Another Breast Cancer Gene?

By Amy Orciari Herman

Edited by Susan Sadoughi, MD, and Richard Saitz, MD, MPH, FACP, FASAM

Mutations in the PALB2 gene confer as much increased risk for breast cancer as BRCA2 mutations, according to a New England Journal of Medicine study. The PALB2 protein is key to several BRCA2 functions, including limiting cellular DNA damage.

U.K. researchers examined breast cancer risk among some 360 members of 154 families in which at least one person had breast cancer and a loss-of-function mutation in PALB2 (but no BRCA mutations). They found that breast cancer risk was 9.5 times higher among mutation carriers than in the general population. The absolute breast cancer risk by age 70 among women with PALB2 mutations ranged from 33% among those with no family history of breast cancer to 58% among those with at least two first-degree relatives with breast cancer at age 50. PALB2 mutations also increased risk among men.

The researchers say the level of risk conferred by PALB2 mutations would be considered high according to American Cancer Society and other guidelines. "This level of risk," they write, "may justify adding PALB2 to genetic testing for BRCA1 and BRCA2."

Reader Comments (1)

Parthasarathy KS PhD Other, Other, Not Applicable (Retired)

For the past few months, a few companies are advertising lavishly in leading dailies in India describing full genome mapping to diagnose a variety of diseases. Some of these advertisements are truly patronizing. They are causing enough damage. I knew a cancer patient who refused radiotherapy because the advertisement described the possibility of secondary cancer. These advertisements glowingly talk about diagnosing some diseases.

The NEJM study looks very impressive. I expect the company to include these results in their next series of advertisements! When any one looks at their claims 23 and Me looks like angels!

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