Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma

NGS testing of normal tissue at surgical resection reliably identifies germline pathogenic variants in patients with HGSOC. Incorporating this approach may help triage patients for clinical genetics assessment.

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Publication Details

Journal
Genes
Published
2025-10-25
DOI
https://doi.org/10.3390/genes16111260
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma

C. Meg McLachlin, L. M. Mui, Jacob McGee, Jennifer Kerkhof et al.
Genes
BRCA gene mutations in cancer
article

Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma

C. Meg McLachlin, L. M. Mui, Jacob McGee, Jennifer Kerkhof, Bekim Sadiković, Karen Panabaker, Emily A. Goebel
article en

Abstract

NGS testing of normal tissue at surgical resection reliably identifies germline pathogenic variants in patients with HGSOC. Incorporating this approach may help triage patients for clinical genetics assessment.

GenesVol. 16(11)
Western University (CA), London Health Sciences Centre (CA)
Openalex Percentile: Top 67%
BRCA gene mutations in cancer
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Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma — C. Meg McLachlin, L. M. Mui, et al. · Genes (2025) | TGRS Research Map | TGRS