A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

ABSTRACT:

Background

Familial lung cancer (FLC) accounts for 8% of lung adenocarcinoma. It is known that a few germline mutations are associated with risk increasing and may provide new screening and treatment option. The goal of this study is to identify an FLC gene among three members of an FLC family.

Methods

To uncover somatic and embryonic mutations linked with familial lung cancer, whole exome sequencing was done on surgical tissues and peripheral blood from three sisters in a family diagnosed with pulmonary lung adenocarcinoma (LUAD). At the same time, single-cell RNA sequencing (scRNA-seq) and bulk RNA sequencing data in public databases were enrolled to identify specific gene expression level.

Results

Ataxia Telangiectasia and Rad3-Related Protein (ATR) gene C.7667C >G

SUBMITTER: Bao G 

PROVIDER: S-EPMC9195140 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature