Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.

ABSTRACT:

Background

Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of polygenic and Mendelian risk toward the earlier onset of breast cancer in the population remains elusive.

Methods

We performed low-pass whole genome sequencing (lpWGS) and whole-exome sequencing (WES) from 220 female breast cancer patients unselected for positive family history from the indigenous Arab population. Using publicly available resources, we imputed population-specific variants and calculated breast cancer burden-sensitive polygenic risk scores (PRS). Variant pathogenicity was also evaluated on exome variants with high coverage.

Results

Var

SUBMITTER: Al-Jumaan M 

PROVIDER: S-EPMC10474689 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature