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Association of Reported Candidate Monogenic Genes With Lung Cancer Risk
Andrew S Rifkin1, Ethan M Less1, Jun Wei1
1Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL.
Clinical Lung Cancer
|February 13, 2023
Summary
This study validates germline monogenic genes linked to lung cancer risk, confirming ATM and suggesting links for BRCA2 and TP53. These findings aid in lung cancer risk assessment and genetic counseling.
Area of Science:
- Genetics
- Oncology
- Bioinformatics
Background:
- Inconsistent findings exist regarding germline monogenic genes and lung cancer risk.
- This study aimed to validate previously reported gene associations with lung cancer susceptibility.
Approach:
- A systematic review identified candidate genes associated with lung cancer risk.
- A UK Biobank study (2,050 cases, 198,553 controls) confirmed associations using SKAT-O analysis.
- Germline mutations were identified and annotated using ACMG criteria.
Key Points:
- Twelve genes were initially identified in the systematic review.
- ATM showed a confirmed association (P = 4.47E-4) with lung cancer risk.
- BRCA2 (P = .007) and TP53 (P = .03) showed suggestive associations, with risk increases from 1.95 to 5.28.
Conclusions:
- This research provides statistical validation for specific germline genes associated with lung cancer.
- The findings have clinical implications for lung cancer risk assessment and genetic counseling.
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