Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer
Bo Chen, Guochun Zhang, Xuerui Li, Chongyang Ren, Yulei Wang, Kai Li, Hsiaopei Mok, Li Cao, Lingzhu Wen, Minghan Jia, Cheukfai Li, Liping Guo, Guangnan Wei, Jiali Lin, Yingzi Li, Yuchen Zhang, Han Han‐Zhang, Jing Liu, Analyn Lizaso, Ning Liao
Abstract
were different among the three groups. By investigating all breast and ovarian cancer-related genes listed in the US genetic guidelines, we identified 15 cancer susceptibility genes frequently mutated in the germline of our population and must be included in cancer predisposition screening. Our study contributed a better understanding of the tumor characteristics of patients with LP/P germline mutations.
Topics & Concepts
GermlinePALB2MUTYHGermline mutationBreast cancerGeneticsCHEK2Ovarian cancerCancerCancer researchBiologyMLH1Missense mutationOncologyMutationMedicineGeneDNA mismatch repairColorectal cancerBRCA gene mutations in cancerCancer Genomics and DiagnosticsDNA Repair Mechanisms