Evidence map›Paper›PMID 39939714›Full record

ArticleEuropean journal of human genetics : EJHG2025

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.

Ed M Dicks, Jonthan P Tyrer, Suzana Ezquina, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Breast-Ovarian Hereditary Cancer Syndrome: BeyondCurrent oncology (Toronto, Ont.) · 2026
    Review
  2. Review
  3. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors.

Ed M DicksDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0617-0401
Jonthan P TyrerDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3724-4757
Suzana EzquinaDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Michelle JonesDepartment of Biomedical Sciences, Cedars-Sinai Medical Centre, Los Angeles, CA, USA.
John BaierlDepartment of Computational Biomedicine, Cedars-Sinai Medical Centre, Los Angeles, CA, USA.
Pei-Chen PengDepartment of Computational Biomedicine, Cedars-Sinai Medical Centre, Los Angeles, CA, USA.
Michael DiazDepartment of Biomedical Sciences, Cedars-Sinai Medical Centre, Los Angeles, CA, USA.
Ellen GoodeMayo Clinic, Rochester, MN, USA.
Stacey J WinhamMayo Clinic, Rochester, MN, USA.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Toon Van GorpDivision of Gynaecological Oncology, Leuven Cancer Institute, University Hospital Leuven and KU Leuven, Leuven, Belgium.
Anna De FazioCentre for Cancer Research, The Westmead Institute for Medical Research, Sydney, NSW, Australia.
David D L BowtellPeter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Dale W GarsedPeter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Kunle OdunsiUniversity of Chicago Medicine Comprehensive Cancer Center, Chicago, IL, USA.
Kirsten MoysichDivision of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.
Marina PavanelloSchool of Clinical Medicine, Faculty of Medicine and Health, University of NSW, Sydney, NSW, Australia.
Florentia FostiraHuman Molecular Genetics Laboratory, National Centre for Scientific Research, Athens, Greece.
Penelope M WebbQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Jana SoukupováInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia.
Paul A CohenDivision of Obstetrics and Gynaecology, Medical School, University of Western Australia, Crawley, WA, Australia.
Weiva SiehMD Anderson Cancer Center, Houston, TX, USA.
Renée Turzanski FortnerDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Charite RickerKeck School of Medicine, Division of Medical Oncology, University of Southern California, Los Angeles, CA, USA.
Beth KarlanUniversity of California Los Angeles, Los Angeles, CA, USA.
Ian CampbellPeter MacCallum Cancer Centre, Melbourne, VIC, Australia.
James D BrentonDepartment of Oncology, University of Cambridge, Cambridge, UK.
Susan J RamusSchool of Clinical Medicine, Faculty of Medicine and Health, University of NSW, Sydney, NSW, Australia.
Simon A GaytherCenter for Inherited Oncogenesis, Department of Medicine, UT Health San Antonio, San Antonio, Texas, USA.
Paul D P PharoahDepartment of Computational Biomedicine, Cedars-Sinai Medical Centre, Los Angeles, CA, USA. paul.pharoah@cshs.org.ORCID 0000-0001-8494-732X

Funding

Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3M
Women's CancersP30CA016042 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Samuel Wheeler French · 1985 to 2026
$134.5M
Use of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI ELLEN L. GOODE · 2009 to 2026
$37.0M
Relating Molecular Subgroups of Endometriosis-Associated Ovarian Cancers to Survival and RiskR01CA248288 · NCI · MAYO CLINIC ROCHESTER · PI Stacey J Winham · 2021 to 2026
$4.8M
The contribution of rare alleles to ovarian cancer in the populationR01CA178535 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GAYTHER, SIMON ANDREW, PHAROAH, PAUL · 2013 to 2017
$3.0M
Identifying new drivers of ovarian cancer from the non-coding genome by converging germline risk variants and somatic mutationsR00CA256519 · NCI · CEDARS-SINAI MEDICAL CENTER · PI PENG, PEI-CHEN · 2023 to 2025
$745k
Cancer Research UK (CRUK) PRCPJT-May21\100006NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA016042NCI NIH HHS P50 CA136393NCI NIH HHS R00 CA256519NCI NIH HHS R01 CA178535NCI NIH HHS R01 CA248288
6 · The paper itself

Abstract

Rare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithelial ovarian cancer. We carried out a gene-by-gene burden test with various histotypes using data from 2573 non-mucinous cases and 13,923 controls. Twelve genes were associated at a False Discovery Rate of less than 0.1 of which seven were the known ovarian cancer susceptibility genes BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH6 and PALB2. The other five genes were OR2T35, HELB, MYO1A and GABRP which were associated with non-high-grade serous ovarian cancer and MIGA1 which was associated with high-grade serous ovarian cancer. Further support for the association of HELB association comes from the observation that loss-of-function variants in HELB are associated with age at natural menopause and Mendelian randomisation analysis shows an association between genetically predicted age at natural menopause and endometrioid ovarian cancer, but not high-grade serous ovarian cancer.

Indexed as

DNA HelicasesGenetic Predisposition to DiseaseOvarian NeoplasmsAdultAgedCarcinoma, Ovarian EpithelialExome SequencingFemaleHumansMiddle AgedDNA Helicases

Identifiers

PMID39939714
PMCPMC11894177

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.