Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2

摘要

We report a novel germline 490delCT mutation in BRCA2 gene, detected in a 38-year-old woman with breast cancer. The mutation originates a premature stop at codon 99, leading to a truncated protein, and has not been documented in any published report to the best of our knowledge.