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This Week in JAMA: Jan 25, 2012


In JAMA this week, an international team of researchers reports a study of the associations between mutations in the BRCA1 and BRCA2 genes, and survival rates of women with invasive epithelial ovarian cancer. The team analyzed data from 26 observational studies of women with ovarian cancer, including 1,213 cases of epithelial ovarian cancer with germline mutations in BRCA1 or BRCA2. They found that epithelial ovarian cancer patients with BRCA1 mutations had a five-year survival rate of 44 percent, women with BRCA2 mutations had a five-year survival rate of 52 percent, and non-carriers had a five-year survival rate of 36 percent. "After adjusting for study and year of diagnosis, BRCA1 and BRCA2 mutation carriers showed a more favorable survival than noncarriers," the authors write. "These survival differences remained after additional adjustment for stage, grade, histology, and age at diagnosis."

In a related editorial in JAMA this week, Memorial Sloan-Kettering Cancer Center's David Spriggs and Weill Cornell Medical College's David Hyman explore the implications of BRCA mutations in ovarian cancer. This newest study shows that it's important to stratify ovarian cancer patients based on the BRCA mutation status, the authors write. In addition, the study shows that the current approach for developing targeted treatments for ovarian cancer needs to be rethought. "The findings of Bolton et al. are the latest evidence that ovarian cancer is a much more genetically and biologically heterogeneous disease than previously appreciated," Spriggs and Hyman write. "Further studies in similarly large data sets are needed to better understand the effects of somatic and epigenetic alterations in BRCA gene function as well as complex interactions with other inherited alleles."

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.