Association of ESR1 germline variants with TP53 somatic variants in breast tumors in a genome-wide study.

ABSTRACT:

Background

In breast tumors, somatic mutation frequencies in TP53 and PIK3CA vary by tumor subtype and ancestry. HER2 positive and triple negative breast cancers (TNBC) have a higher frequency of TP53 somatic mutations than other subtypes. PIK3CA mutations are more frequently observed in hormone receptor positive tumors. Emerging data suggest tumor mutation status is associated with germline variants and genetic ancestry. We aimed to identify germline variants that are associated with somatic TP53 or PIK3CA mutation status in breast tumors.

Methods

A genome-wide association study was conducted using breast cancer mutation status of TP53 and PIK3CA and functional mutation categories including TP53 gain of function

SUBMITTER: Tjader NP 

PROVIDER: S-EPMC10723566 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature