Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

摘要

IntroductionCheckpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers.