Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.

ABSTRACT:

Introduction

SCLC has traditionally been considered to arise from toxic exposure factors, such as smoking. Recent evidence has revealed that germline mutations may also affect the development of SCLC; however, these alterations remain understudied. We sought to identify novel germline mutations in SCLC including germline copy number variations (CNVs) in our cohort of patients.

Methods

We designed a custom hybrid-capture gene panel to evaluate germline alterations in 192 cancer-predisposition and frequently mutated genes in SCLC. We applied this panel to germline analysis of a treatment-naive cohort of 67 patients with SCLC at our institution. Subsequently, we annotated the variants using the American College of Medical Genetics criteria and further classified variants of unc

SUBMITTER: Ul Haq S 

PROVIDER: S-EPMC11574802 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature