Recommendations for clinical molecular laboratories for detection of homologous recombination deficiency in cancer: A joint consensus recommendation of the Association for Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists Review

  

Authors:	Hsiao, S. J.; Black, D.; Devereaux, K. A.; Hagemann, I. S.; Jennings, L. J.; Mandelker, D.; Paulson, V. A.; Shiller, M.; Stockley, T. L.; Vail, E.; Vikas, P.; Yemelyanova, A.
Review Title:	Recommendations for clinical molecular laboratories for detection of homologous recombination deficiency in cancer: A joint consensus recommendation of the Association for Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists
Abstract:	Homologous recombination deficiency (HRD) is a genomic feature present in some malignant neoplasms and is attributed to the failure of the homologous recombination repair pathway. Tumors with an HRD-positive status may have a distinct prognosis and/or response to therapies, including poly (ADP-ribose) polymerase inhibitors. The Association for Molecular Pathology assembled an expert panel to examine current practice and perform a scoping review of the medical literature pertaining to the molecular detection of HRD in the clinical setting. The expert panel examined the following topics: components of existing and proposed HRD and genomic instability biomarkers (including mutational signatures, loss of heterozygosity, mutations in homologous recombination repair–associated genes, and epigenetic silencing of RAD51C, BRCA1, or BRCA2); technical considerations for identifying genomic scars from tumor and germline next-generation sequencing results; guidelines on interpretation and caveats when reporting assessments of genomic instability and HRD scores; and the clinical significance of HRD. The panel formulated a set of expert consensus opinion recommendations regarding HRD assay design and validation to guide laboratories in developing HRD tests to ensure high-quality and reproducible results. © 2025 Association for Molecular Pathology and American Society for Investigative Pathology
Keywords:	review; biological marker; homologous recombination; consensus; practice guideline; genomic instability; scar formation; nicotinamide adenine dinucleotide adenosine diphosphate ribosyltransferase inhibitor; heterozygosity loss; clinical practice guideline; pathologist; scar; molecular pathology; high throughput sequencing; clinical significance; recombination repair; human; malignant neoplasm; scoping review; scar tissue
Journal Title:	Journal of Molecular Diagnostics
Volume:	27
Issue:	8
ISSN:	1525-1578
Publisher:	Elsevier Science, Inc.
Date Published:	2025-08-01
Start Page:	685
End Page:	704
Language:	English
DOI:	10.1016/j.jmoldx.2025.05.003
PUBMED:	40517897
PROVIDER:	scopus
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-105010545273&doi=10.1016%2fj.jmoldx.2025.05.003&partnerID=40&md5=59bb0f68eec3963e4d896b9610cf188a
Notes:	Source: Scopus

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