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- W2630905503 abstract "1513 Background: New insights into lung cancer genomics has required a new look at genetic determinants of inherited lung cancer risk. There are now four germline mutations in lung cancer oncogenes (EGFR T790M, V843I, R776H; and ERBB2 G660D) which have been reported in kindreds with a high prevalence of lung cancer in nonsmokers. We hypothesized that routine tumor NGS could be used to find rare kindreds with inherited lung cancer risk. Methods: An institute-wide database of tumor NGS results was queried for cases positive for one of the reported germline risk alleles in EGFR or ERBB2. At our center, tumor NGS is performed using a hybrid-capture platform spanning exons and key introns of ~400 cancer related genes, and is available for patients (pts) with consent to a research protocol. For living pts with a mutation detected at an allelic fraction (AF) > 25%, and excluding acquired T790M, genetic counseling and CLIA germline testing was provided. For pts with EGFR T790M, testing was performed on the INHERIT EGFR study (NCT01754025; ALCMI). Results: 51 cases were identified from a total of 13,488 cancers with NGS results: 45 with EGFR T790M (all lung cancer), 4 with EGFR R776H (NSCLC, endometrial cancer, and 2 glioma), 2 with ERBB2 G660D (NSCLC and glioblastoma). 34 pts with T790M detected after EGFR inhibitor were excluded, leaving 17 pts of interest. Germline testing was performed on 9 living pts with > 25% AF on NGS, and was positive in 8; 6 of these had germline EGFR T790M. Additionally, germline EGFR R776H was found in a never-smoker with metastatic endometrial cancer; she had a prior a history of NSCLC, and family history was notable for multiple members with lung, breast, and colon cancer. Germline ERBB2 G660D was found in a young never-smoker with metastatic NSCLC and a family history significant for lung cancer in multiple first-degree relatives. Conclusions: Rare germline lung cancer risk mutations in EGFR and ERBB2 can be identified on routine tumor NGS, and may indicate a risk of inherited lung cancer. Our study includes the second known report of a germline EGFR R776H or ERBB2 G660D mutations. Commercial germline NGS assays could be expanded to cover these rare but potentially high-penetrance variants." @default.
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- W2630905503 date "2017-05-20" @default.
- W2630905503 modified "2023-09-22" @default.
- W2630905503 title "Routine tumor next-generation sequencing (NGS) to identify rare germline lung cancer risk mutations in EGFR and ERBB2." @default.
- W2630905503 doi "https://doi.org/10.1200/jco.2017.35.15_suppl.1513" @default.
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