Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

ABSTRACT:

Background

Pathogenic germline variants (PGVs) in certain genes are linked to higher lifetime risk of developing breast cancer and can influence preventive surgery decisions and therapy choices. Public health programs offer genetic screening based on criteria designed to assess personal risk and identify individuals more likely to carry PGVs, dividing patients into screened and non-screened groups. How tumor biology and clinicopathological characteristics differ between these groups is understudied and could guide refinement of screening criteria.

Methods

Six thousand six hundred sixty breast cancer patients diagnosed in South Sweden during 2010-2018 were included with available clinicopathological and RNA sequencing data, 900 (13.5%) of which had genes screened for PGVs thr

SUBMITTER: Nacer DF 

PROVIDER: S-EPMC10103478 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature