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The Genomic Landscape of SMARCA4 Alterations and Associations with Outcomes in Patients with Lung Cancer.


ABSTRACT:

Purpose

SMARCA4 mutations are among the most common recurrent alterations in non-small cell lung cancer (NSCLC), but the relationship to other genomic abnormalities and clinical impact has not been established.

Experimental design

To characterize SMARCA4 alterations in NSCLC, we analyzed the genomic, protein expression, and clinical outcome data of patients with SMARCA4 alterations treated at Memorial Sloan Kettering.

Results

In 4,813 tumors from patients with NSCLC, we identified 8% (n = 407) of patients with SMARCA4-mutant lung cancer. We describe two categories of SMARCA4 mutations: class 1 mutations (truncating mutations, fusions, and homozygous deletion) and class 2 mutations (missense mutations). Protein expression loss

SUBMITTER: Schoenfeld AJ 

PROVIDER: S-EPMC7641983 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature