The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers

The overall germline concordance rate of 64% for the combined population is in accordance with the reported literature. Possible reasons for the variability in rates could be related to reporting guidelines for secondary germline variants, which can vary by company, and differences between somatic and germline variant curation. The study of P/LPGVs in populations from community cancer centers has the potential to increase the data of underrepresented minority groups regarding this important clinical issue and help expand understanding of hereditary cancer syndrome phenotypes.

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Publication Details

Journal
Genes
Published
2025-12-09
DOI
https://doi.org/10.3390/genes16121476
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers

Luigi Boccuto, Diana Ivankovic, Sourat Darabi, Sarah Moncado
Genes
BRCA gene mutations in cancer
article

The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers

Luigi Boccuto, Diana Ivankovic, Sourat Darabi, Sarah Moncado
article en

Abstract

The overall germline concordance rate of 64% for the combined population is in accordance with the reported literature. Possible reasons for the variability in rates could be related to reporting guidelines for secondary germline variants, which can vary by company, and differences between somatic and germline variant curation. The study of P/LPGVs in populations from community cancer centers has the potential to increase the data of underrepresented minority groups regarding this important clinical issue and help expand understanding of hereditary cancer syndrome phenotypes.

GenesVol. 16(12)
Hoag Memorial Hospital Presbyterian (US), Reading Hospital (US), Clemson University (US)
Openalex Percentile: Top 59%
BRCA gene mutations in cancer
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The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers — Luigi Boccuto, Diana Ivankovic, et al. · Genes (2025) | TGRS Research Map | TGRS