Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.

ABSTRACT:

Background

Breast screening recommendation based on individual risk assessment is emerging as an alternative approach to improve compliance and efficiency to detect breast cancer (BC) early. In Vietnam, prior knowledge to stratify risk based on genetic factors is currently lacking.

Methods

This study recruited 892 BC patients and 735 healthy Vietnamese women from 2016 to 2021. DNA from blood samples of BC patients was first analyzed for pathogenic variants associated with hereditary breast and ovarian cancer syndrome (HBOC). For patients with no HBOC and healthy participants, DNA was genotyped for 398 BC susceptibility single-nucleotide polymorphism (SNPs) by next-generation sequencing to identify significantly associated SNPs and construct a polygenic risk score (PRS).

R

SUBMITTER: Vinh DN 

PROVIDER: S-EPMC11524051 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature