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Tests that reveal whether a tumour has a broken DNA repair system, which predicts response to PARP inhibitors and platinum.
HRD and BRCA testing identifies tumours whose homologous recombination DNA repair is defective and therefore vulnerable to PARP inhibitors and platinum. It combines germline and somatic BRCA1/2 sequencing with genomic-scar scores such as the myChoice CDx genomic instability score and FoundationOne LOH, which sum loss of heterozygosity, telomeric allelic imbalance and large-scale transitions into one measure. This extends PARP-inhibitor benefit beyond BRCA carriers. The scar, however, is permanent: it persists even after reversion mutations restore repair and resistance emerges, and the thresholds defining HRD-positive are still debated. Functional assays such as RAD51 foci and mutational signature 3 are emerging alternatives that may capture current repair status. These tests reveal whether a tumour's DNA repair is broken, which predicts response to PARP inhibitors and platinum.
Loss of heterozygosity, telomeric allelic imbalance, and large-scale transitions summed into a genomic instability score.
The inherited BRCA test that decides who can have PARP inhibitor pills for ovarian, breast, pancreatic and prostate cancer.
A tumour test that measures DNA-repair scarring so that women with ovarian cancer beyond BRCA carriers can benefit from PARP inhibitors.
It defines who a homologous recombination result should send to platinum: core-gene and biallelic carriers, germline or somatic, rather than any repair-gene variant.
Women with newly diagnosed advanced ovarian cancer should have their tumour tested for BRCA mutations and homologous recombination deficiency, because those who are HRD-positive gain years of additional disease control and better survival from adding olaparib to bevacizumab maintenance. Those who are HRD-negative gain nothing from olaparib in this combination and should not be exposed to its toxicity and cost. HRD testing has become a routine part of ovarian cancer care as a result.
It is the best population-based estimate of how much TNBC is homologous recombination deficient, shows that most of it is not germline BRCA, and argues that whole-genome sequencing at diagnosis could stratify trials and pick out the low group that needs something other than DNA-damaging chemotherapy.
The survival evidence behind platinum in early triple-negative disease, and the first large demonstration that most triple-negative tumours are DNA-repair deficient whether or not BRCA is mutated, which is why HRD scores have not become a platinum selection test.
One technology page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
This paper set the HRD score threshold the myChoice assay still uses and showed that genomic scars extend platinum sensitivity beyond BRCA carriers in early TNBC, though the TNT trial later found the same score did not predict carboplatin benefit in advanced disease.
The genomic case for platinum in BRCA-type pancreatic cancer, four years before POLO built a maintenance strategy on top of it.
Query for this technology: (TITLE:"homologous recombination deficiency" OR ABSTRACT:"homologous recombination deficiency" OR TITLE:"HRD testing" OR ABSTRACT:"HRD testing" OR TITLE:"HRD score" OR ABSTRACT:"HRD score"). Results are unfiltered search hits about HRD & BRCA testing, not a curated reading list.
Shares HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures, Homologous recombination deficiency (HRD) score predicts response to platinum-containing neoadjuvant chemotherapy in patients with triple-negative breast cancer, Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study, myChoice CDx.
Shares Isabelle Ray-Coquard, myChoice CDx, ARCAGY-GINECO, Society of Gynecologic Oncology.
Shares HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures, Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study, myChoice CDx, Survival analysis of carboplatin added to an anthracycline/taxane-based neoadjuvant chemotherapy and HRD score as predictor of response-final results from GeparSixto.
Shares myChoice CDx, HRD genomic scar scores (GIS, LOH, HRDetect), Platinum-sensitive ovarian cancer, Homologous recombination deficiency (HRD).
Shares BRACAnalysis CDx, Whole genomes redefine the mutational landscape of pancreatic cancer, DNA damage response & homologous recombination, Double-strand break repair: HR versus end joining.
Shares RAD51 foci assay (functional HRD test), Platinum-sensitive ovarian cancer, Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD).
Shares HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures, Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study, Enabling characteristic: genome instability and mutation, Genomic methods identify homologous recombination deficiency in pancreas adenocarcinoma and optimize treatment selection.
Shares myChoice CDx, ARCAGY-GINECO, RAD51 foci assay (functional HRD test), HRD genomic scar scores (GIS, LOH, HRDetect).