Genetics

Third Gene Linked to Breast Cancer, the Genetics of Stress, and a Patient Group Takes Charge

By Rhonda Reinhart

Illustration by Mario Wagner

Study links third gene to increased risk of breast cancer: Mutations in the BRCA1 and BRCA2 genes are widely known to be linked to inherited cases of breast cancer. But now researchers have discovered that mutations in a third gene, PALB2, also increase a carrier’s risk of developing the disease. Past research had already implicated the gene in breast cancer risk, but this news explains the extent to which a PALB2 mutation increases a person’s odds. Overall, a PALB2 mutation means a 35 percent chance of developing breast cancer by age 70.

Subtle gene changes predict stress-related disorders: New research published in Nature Neuroscience could explain why some people are more susceptible to stress and its associated illnesses, including depression, post-traumatic stress disorder, and obesity. The studies included in the report focused on the serotonin transporter, a gene that regulates the amount of serotonin signaling between brain cells. This molecule is a major target for antidepressants. Researchers determined that even subtle gene modifications were a stronger predictor of depression risk than DNA sequencing.

Muscular dystrophy advocacy group writes draft guidance for FDA review: Parent Project Muscular Dystrophy, a patient advocacy group frustrated by research setbacks, has written a draft guidance for pharmaceutical companies trying to develop treatments for Duchenne muscular dystrophy, a debilitating condition that causes progressive muscle weakness. Guidances are typically created by the FDA, but group members took it upon themselves to write the guidance in hopes that it will speed drug development for the fatal disease.