New gene testing technology finds cancer risks 'hiding in plain sight'

Science news

 "When a woman with a family history of breast cancer sees her physician, they want to know if they have a mutation in breast/ovarian cancer genes," says Rogan. "All of the patients that we studied had been sequenced for BRCA1 or BRCA2. The causative cancer gene variants are hiding in plain sight in these and other cancer genes, but the original testing laboratory didn't recognize them. Our approach can reveal gene variants that might explain their increased risk for cancer."

Journal References:

1. Eliseos J. Mucaki, Natasha G. Caminsky, Ami M. Perri, Ruipeng Lu, Alain Laederach, Matthew Halvorsen, Joan H. M. Knoll, Peter K. Rogan. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. BMC Medical Genomics, 2016; 9 (1) DOI: 10.1186/s12920-016-0178-5
2. Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H.M. Knoll, Peter K. Rogan. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer (HBOC) Genes in Patients Lacking knownBRCAMutations. Human Mutation, 2016; DOI: 10.1002/humu.22972