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Updated: Mar 30, 2026
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.
Kasmintan A Schrader1, Donavan T Cheng2, Vijai Joseph3
1Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York2Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada3Department of Medical Genetics, University of British Columbia, Vancouver, British C.
Routine tumor sequencing frequently identifies germline variants, with 15.7% of patients harboring presumed pathogenic germline variants (PPGVs). These findings can reveal unexpected genetic conditions beyond cancer susceptibility.
Area of Science:
- Genomics
- Oncology
- Clinical Genetics
Background:
- Tumor genetic sequencing aids in identifying targetable alterations for cancer therapy.
- Focus has been on tumor-specific variants, but germline variants also hold clinical significance.
Purpose of the Study:
- To determine the prevalence of germline variants detected during routine clinical tumor sequencing.
- To assess the clinical implications of these germline findings.
Main Methods:
- Utilized MSK-IMPACT, a 341-gene panel, for tumor-normal sequencing in 1566 patients with advanced cancer.
- Analyzed germline variants in 187 genes associated with Mendelian diseases.
Main Results:
- Identified presumed pathogenic germline variants (PPGVs) in 15.7% of patients, with 198 cases involving cancer susceptibility genes.
- Germline findings in cancer genes were concordant with cancer type in 40.9% of cases.
- Found mutations in non-cancer Mendelian disease genes in 3.5% of patients.
Conclusions:
- Germline variants are frequently detected in patients undergoing tumor-normal sequencing.
- These variants can uncover unsuspected syndromic associations, impacting patient care beyond cancer treatment.
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