Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.

ABSTRACT:

Introduction

Lung cancer is the leading cause of cancer deaths in the world, and lung adenocarcinoma (LUAD) is its most prevalent subtype. Symptoms are often found in advanced disease in which treatment options are limited. Identifying genetic risk factors will enable better identification of high-risk individuals.

Methods

To identify LUAD risk genes, we performed a case-control association study for gene-level burden of rare, deleterious variants (RDVs) in germline whole-exome sequencing data of 1083 patients with LUAD and 7650 controls, split into discovery and validation cohorts. Of these, we performed whole-exome sequencing on 97 patients and acquired the rest from multiple public databases. We annotated all rare variants for pathogenicity conservatively, using the guide

SUBMITTER: Esai Selvan M 

PROVIDER: S-EPMC8496202 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature