Evidence map›Paper›PMID 41526458›Full record

ArticleCommunications medicine2026

Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.

Majd Al Assaad, Kevin Hadi, Max F Levine, Daniela Guevara, Minal Patel, Marvel Tranquille, Abigail King, John Otilano, Alissa Semaan, Gunes Gundem and 17 more

Abstract read
In one paragraph

Article in Communications medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Majd Al Assaad *Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-9512-0253
Kevin Hadi *Isabl, Inc., New York, NY, USA.
Max F Levine *Isabl, Inc., New York, NY, USA.ORCID http://orcid.org/0000-0001-5156-9086
Daniela GuevaraEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-9428-4125
Minal PatelIsabl, Inc., New York, NY, USA.
Marvel TranquilleEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-6608-5778
Abigail KingEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0009-0008-5358-8414
John OtilanoEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Alissa SemaanEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Gunes GundemIsabl, Inc., New York, NY, USA.
Juan S Medina-MartínezIsabl, Inc., New York, NY, USA.
Michael SigourosEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-0328-8359
Jyothi ManoharEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Hui-Hsuan KuoEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0001-8266-7105
David C WilkesEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-2422-1145
Eleni AndreopoulouEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Eloise Chapman-DavisEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Scott T TagawaEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0003-2777-8587
Andrea SbonerDepartment of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0001-6915-3070
Allyson J OceanEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Manish A ShahEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-6913-9655
Elli PapaemmanuilIsabl, Inc., New York, NY, USA.
Cora N SternbergEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0003-3938-2627
Kevin HolcombEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
David M NanusEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Olivier ElementoEnglander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-8061-9617
Juan Miguel MosqueraDepartment of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA. jmm9018@med.cornell.edu.ORCID http://orcid.org/0000-0003-4666-6476

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHomologous recombination deficiency (HRD) impacts cancer treatment strategies, particularly effective utilization of PARP inhibitors. However, the variability of different HRD assays has hampered the selection of oncology patients who may benefit from these therapies. Our study aims to use the whole genome landscape to better define HRD in a pan-cancer cohort.

methodsWe employed a whole genome sequencing HRD classifier that includes genome-wide signatures associated with HRD to analyze 580 tumor/normal paired samples. The HRD phenotype was correlated with genomic variants in BRCA1/2 and other homologous recombination repair genes.

resultsIn this paper we show that the HRD phenotype is identified in various cancers including breast (21%), pancreaticobiliary (20%), gynecological (17%), prostate (9%), upper gastrointestinal (GI) (2%), and other cancers (1%). HRD cases are not confined to BRCA1/2 mutations; 24% of HRD cases are BRCA1/2 wild-type. A diverse range of gene alterations involved in HRD are elucidated, including biallelic mutations in FANCF, XRCC2, and FANCC, and deleterious structural variants. In a subset of cases, the whole genome sequencing-based classifier offers more insights and a better correlation to treatment response when compared to other assays.

conclusionsAlthough HRD is a biomarker used to determine which cancer patients would benefit from PARP inhibitors, a lack of harmonization of tests to determine HRD status makes it challenging to interpret their results. Our study highlights the use of comprehensive whole genome sequencing analysis to better predict HRD and elucidates genomic mechanisms associated with this phenotype.

Identifiers

PMID41526458
PMCPMC12796271

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.