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Rate of Pathogenic Germline Variants in Patients With Lung Cancer
Steven Sorscher1, Jaclyn LoPiccolo2, Brandie Heald1
1Invitae, San Francisco, CA.
Germline genetic testing in lung cancer (LC) patients reveals a high frequency of pathogenic germline variants (PGVs), particularly in DNA damage repair genes. These findings support broader GGT recommendations for lung cancer.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Germline genetic testing (GGT) is standard for several cancers but not universally for lung cancer (LC).
- Lack of evidence on pathogenic germline variant (PGV) frequency in LC patients hinders GGT recommendations.
- This study investigates GGT results in a diverse LC cohort.
Conclusions:
- A lung cancer diagnosis is associated with a significant likelihood of harboring cancer-predisposing PGVs across ancestries.
- Enrichment of PGVs in DNA damage repair genes suggests a role in lung cancer predisposition.
- GGT in lung cancer patients identifies actionable variants, supporting expanded testing recommendations.
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