Evidence map›Paper›PMID 42335889›Full record

ArticleAmerican journal of human genetics2026

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.

Simon Schnaiter, Frédéric R Santer, Katalin A Csanaky, Louise Adel Jensen, Alain G Zeimet, Kyriaki Michailidou, Amanda B Spurdle, Mads Thomassen

Abstract read
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

8 authors.

Simon SchnaiterInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: simon.schnaiter@i-med.ac.at.
Frédéric R SanterDepartment of Gynecology and Obstetrics, Medical University of Innsbruck, Innsbruck, Austria.
Katalin A CsanakyInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Louise Adel JensenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Alain G ZeimetDepartment of Gynecology and Obstetrics, Medical University of Innsbruck, Innsbruck, Austria.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Amanda B SpurdleFaculty of Medicine, The University of Queensland, Herston, QLD, Australia.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Homologous recombination deficiency (HRD) drives oncogenesis and therapeutic vulnerability in high-grade ovarian cancer (HGOC). While HRD testing is widely used to guide platinum- and especially poly(ADP-ribose) polymerase (PARP)-inhibitor-based therapies, its potential to provide evidence for BRCA1 and BRCA2 variant classification under the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) framework has not been assessed. In this Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium project, a literature review identified four independent HGOC cohorts reporting details on both BRCA1 and BRCA2 pathogenic variant (BRCA

Indexed as

BRCA1 ProteinBRCA2 ProteinGenomic InstabilityHomologous RecombinationOvarian NeoplasmsFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCAcancer riskgenomic instabilityHRDovarian cancervariant classificationVUS

Identifiers

PMID42335889
PMCPMC13504338

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.