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Article

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

International journal of molecular sciences - 29 May 2020

Hirotsu Yosuke, Schmidt-Edelkraut Udo, Nakagomi Hiroshi, Sakamoto Ikuko, Hartenfeller Markus, Narang Ram, Soldatos Theodoros G, Kaduthanam Sajo, Wang Xiaoyue, Hettich Stephan, Brock Stephan, Jackson David B, Omata Masao

Abstract excerpt

BRCA1/2 variants are prognostic biomarkers for hereditary breast and/or ovarian cancer (HBOC) syndrome and predictive biomarkers for PARP inhibition. In this study, we benchmarked the classification of BRCA1/2 variants from patients with HBOC-related cancer using MH BRCA, a novel computational technology that combines the ACMG guidelines with expert-curated variant annotations. Evaluation of BRCA1/2 variants (n =...

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Identifiers

PMID: 32486089
DOI: 10.3390/ijms21113895
PMCID: PMC7312854

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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