Evidence map›Paper›PMID 41070818›Full record

GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2025

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Joanne Ngeow, Jianbang Chiang, Esteban Astiazaran-Symonds, Judith Balmaña, Ilana Cass, Felix K F Kommoss, William D Foulkes, Paul A James, Arielle Katcher, Susan Klugman and 9 more

Abstract readPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

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

19 authors.

Joanne NgeowGenomic Medicine, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Jianbang ChiangGenomic Medicine, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Esteban Astiazaran-SymondsDepartment of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ.
Judith BalmañaHereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Hospital Campus, Barcelona, Spain.
Ilana CassDepartment of Obstetrics and Gynecology, Geisel School of Medicine, Dartmouth-Hitchcock Health, Lebanon, NH.
Felix K F KommossInstitute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
William D FoulkesDepartments of Human Genetics, Oncology and Medicine, McGill University, Montréal, Québec, Canada.
Paul A JamesSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Arielle KatcherDivision of Gynecologic Oncology, Helen F. Graham Cancer Center, ChristianaCare Health System, Newark, DE.
Susan KlugmanDivision of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
Alicia A LivinskiNational Institutes of Health Library, Office of Research Services, OD, NIH, Bethesda, MD.
Julie S MakUniversity of California San Francisco Health Center for Clinical Genetics and Genomics, San Francisco, CA.
Nicoleta VoianProvidence Genetic Risk Clinic, Providence Cancer Institute, Portland, OR.
Myra J WickDepartments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, MN.
Marc TischkowitzDepartment of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.
Tuya PalDepartment of Medicine, Vanderbilt University Medical Center/Vanderbilt-Ingram Cancer Center, Nashville, TN.
Douglas R StewartClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Helen HansonPeninsula Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK.
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.netAmerican College of Medical Genetics and Genomics, Bethesda, MD.

Funding

Genetic Modifiers of Cancer RiskZIACP010142 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI MIRABELLO, LISA · 2009 to 2025
$17.1M
SUPPORT FOR THE ROSE F KENNEDY IDDRC P50P50HD105352 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SOPHIE MOLHOLM, Steven Upshaw Walkley · 2021 to 2026
$7.0M
Intramural NIH HHS Z99 CA999999Intramural NIH HHS ZIA CP010142NICHD NIH HHS P50 HD105352
6 · The paper itself

Abstract

purposeRAD51C, RAD51D, and BRIP1 germline pathogenic variants (GPVs) are associated with increased lifetime risks of tubo-ovarian cancer. Resources for managing RAD51C, RAD51D, and BRIP1 heterozygotes in clinical practice are limited.

methodsAn international workgroup developed a Clinical Practice Resource to guide management of RAD51C, RAD51D, and BRIP1 heterozygotes using peer-reviewed publications and expert opinion.

resultsRAD51C, RAD51D, and BRIP1 are moderate (intermediate) penetrance ovarian cancer predisposition genes. Ovarian cancer risks for individuals with RAD51C, RAD51D, and BRIP1 GPVs may be influenced by family history and other modifiers. RAD51C and RAD51D GPVs are also associated with moderate risk of breast cancer, predominantly triple-negative subtype. RAD51C, RAD51D, and BRIP1 heterozygotes should be offered risk-reducing salpingo-oophorectomy close to the age of menopause based on age-specific risks and shared decision making. For RAD51C and RAD51D heterozygotes, enhanced breast surveillance may be indicated according to their personalized risk estimate and country-specific guidelines. Generally, risk-reducing mastectomy is not recommended. For RAD51C, RAD51D, and BRIP1 heterozygotes who develop cancer, there is insufficient evidence to guide any specific targeted treatment.

conclusionSystematic prospective data collection is needed to establish the outcomes of RAD51C, RAD51D, and BRIP1 associated cancers and particularly response to cancer treatment and survival.

Indexed as

DNA-Binding ProteinsFanconi Anemia Complementation Group ProteinsOvarian NeoplasmsRNA HelicasesFemaleGenetic Predisposition to DiseaseGenetic TestingGenomicsGerm-Line MutationHeterozygoteHumansBRIP1 protein, humanDNA-Binding ProteinsFanconi Anemia Complementation Group ProteinsRAD51C protein, humanRAD51D protein, humanRNA HelicasesBRIP1Cancer predispositionCancer riskRAD51CRAD51D

Identifiers

PMID41070818
PMCPMC12862869

What Socratic holds

Textmetadata
LicenceTDM
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.