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Protein-altering germline mutations implicate novel genes related to lung cancer development
Xuemei Ji1, Semanti Mukherjee2, Maria Teresa Landi3
1Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA. xuemei.ji@yahoo.com.
Nature Communications
|May 13, 2020
Summary
Germline mutations in ATM and KIAA0930 are linked to lung cancer risk. A specific ATM mutation (L2307F) significantly increases adenocarcinoma risk, especially in females and Ashkenazi Jewish populations.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Germline mutations influencing lung cancer susceptibility are rare.
- Understanding genetic risk factors is crucial for early detection and prevention strategies.
Purpose of the Study:
- To identify novel germline genetic variants associated with lung cancer risk.
- To investigate the association of ATM and KIAA0930 variants with lung adenocarcinoma in a large cohort.
Main Methods:
- Genome-wide association study (GWAS) of rare variants in 39,146 individuals of European ancestry.
- Gene expression analysis in 7,773 samples.
- Case-control association analyses for discovery and replication cohorts.
Main Results:
- A significant association was found between the ATM L2307F mutation and lung adenocarcinoma risk (OR=8.82 in discovery, OR=2.93 in replication), particularly in females.
- The ATM L2307F mutation was more frequent in Ashkenazi Jewish populations (4%).
- An association was also observed with a KIAA0930 loss-of-function mutation (Q4X) and lung cancer risk.
Conclusions:
- Germline genetic variants in ATM are implicated in lung cancer susceptibility.
- KIAA0930 emerges as a novel candidate gene for lung cancer risk.
- These findings highlight the role of specific germline mutations in lung cancer etiology.
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