The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.

ABSTRACT:

Introduction

Population-based cancer screening has raised many controversies in recent years, not only regarding the costs but also regarding the ethical nature and issues related to variant interpretation. Nowadays, genetic cancer screening standards are different in every country and usually encompass only individuals with a personal or family history of relevant cancer.

Methods

Here we performed a broad genetic screening for cancer-related rare germline variants on population data from the Thousand Polish Genomes database based on 1076 Polish unrelated individuals that underwent whole genome sequencing (WGS).

Results

We identified 19 551 rare variants in 806 genes related to oncological diseases, among them 89% have been located in non-coding regions. The combined

SUBMITTER: Mroczek M 

PROVIDER: S-EPMC9950741 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature