Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients.

ABSTRACT:

Background

Germline mutations play an important role in the pathogenesis of lung cancer. Nonetheless, research on malignant ground glass opacity (GGO) nodules is limited.

Methods

A total of 13 participants with malignant GGO nodules were recruited in this study. Peripheral blood was used for exome sequencing, and germline mutations were analyzed using InterVar. The whole exome sequencing dataset was analyzed using a filtering strategy. KOBAS 3.0 was used to analyze KEGG pathway to further identify possible deleterious mutations.

Results

There were seven potentially deleterious germline mutations. NM_001184790:exon8: c.C1070T in PARD3, NM_001170721:exon4:c.C392T in BCAR1 and NM_001127221:exon46: c.G6587A in CACNA1A were present in three cases each;

SUBMITTER: Mao W 

PROVIDER: S-EPMC8415279 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature