MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

ABSTRACT:

Purpose

An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.

Methods

We conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data).

Results

When evaluating by gene, the age-standardized breast cancer risks for MSH6 (SIR 

SUBMITTER: Roberts ME 

PROVIDER: S-EPMC6051923 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature