Journal article
Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer: A Joint Consensus Recommendation of the Association of Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists
The Journal of molecular diagnostics : JMD, Vol.27(8), pp.685-704
08/2025
DOI: 10.1016/j.jmoldx.2025.05.003
PMID: 40517897
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 (HRR) pathway. Tumors with an HRD-positive status may have a distinct prognosis and/or response to therapies, including poly (ADP-ribose) polymerase inhibitors (PARPi). 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 HRR-associated genes, epigenetic silencing of RAD51C, BRCA1 or BRCA2); technical considerations for identifying genomic scars from tumor and germline NGS 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.
Details
- Title: Subtitle
- Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer: A Joint Consensus Recommendation of the Association of Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists
- Creators
- Susan J. Hsiao - Columbia University Irving Medical CenterDestin Black - Willis-Knighton Cancer CenterKelly A. Devereaux - Memorial Sloan Kettering Cancer CenterIan S Hagemann - Washington University in St. LouisLawrence J. Jennings - Northwestern UniversityDiana Mandelker - Memorial Sloan Kettering Cancer CenterVera A. Paulson - University of WashingtonMichelle Shiller - Cancer GeneticsTracy L. Stockley - The Detection of Homologous Recombination Deficiency in Cancer (HRD) Working Group of the Association for Molecular Pathology, Clinical Practice Committee∗, Rockville, MD, USAEric Vail - Cedars-Sinai Medical CenterPraveen Vikas - University of IowaAnna Yemelyanova - The Detection of Homologous Recombination Deficiency in Cancer (HRD) Working Group of the Association for Molecular Pathology, Clinical Practice Committee∗, Rockville, MD, USA
- Resource Type
- Journal article
- Publication Details
- The Journal of molecular diagnostics : JMD, Vol.27(8), pp.685-704
- DOI
- 10.1016/j.jmoldx.2025.05.003
- PMID
- 40517897
- NLM abbreviation
- J Mol Diagn
- ISSN
- 1525-1578
- eISSN
- 1943-7811
- Publisher
- Elsevier Inc
- Grant note
- Association for Molecular Pathology (AMP), United States
Supported exclusively by the Association for Molecular Pathology (AMP), United States
- Language
- English
- Electronic publication date
- 06/13/2025
- Date published
- 08/2025
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
- Record Identifier
- 9984832087102771
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