Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.

ABSTRACT:

Purpose

Lynch syndrome is defined by germline pathogenic mutations involving DNA mismatch repair (MMR) genes and linked with the development of MMR-deficient colon and endometrial cancers. Whether breast cancers developing in the context of Lynch syndrome are causally related to MMR deficiency (MMRd), remains controversial. Thus, we explored the morphologic and genomic characteristics of breast cancers occurring in Lynch syndrome individuals.

Experimental design

A retrospective analysis of 20,110 patients with cancer who underwent multigene panel genetic testing was performed to identify individuals with a likely pathogenic/pathogenic germline variant in MLH1, MSH2, MSH6, or PMS2 who developed breast cancers. The histologic characteristics and IHC

SUBMITTER: Schwartz CJ 

PROVIDER: S-EPMC9199381 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature