Childhood, adolescent, and young adulthood cancer risk in <i>BRCA1</i> or <i>BRCA2</i> pathogenic variant carriers
We found no evidence that BRCA1 and BRCA2 pathogenic variant carriers have an increased childhood, adolescent, and young adult cancer risk aside from breast cancer in women aged between 20 and 30 years. Our results, along with a critical evaluation of previous germline sequencing studies, suggest that the childhood and adolescent cancer risk conferred by BRCA1 and BRCA2 pathogenic variant would be low (ie, RR < 2) if it existed. Our findings do not support pathogenic variant testing for offspring of BRCA1 and BRCA2 pathogenic variant carriers at ages younger than 18 years or for conducting BRCA1 and BRCA2 pathogenic variant testing for childhood and adolescent cancer patients.
Authors
- Megan N. Frone (ORCID: https://orcid.org/0000-0001-8273-8866)
- Florentia Fostira (ORCID: https://orcid.org/0000-0003-2751-2332)
- Paraskevi Apostolou (ORCID: https://orcid.org/0000-0001-9865-0682)
- Hannah Wallaschek
- Lisa Diller (ORCID: https://orcid.org/0000-0002-4073-5509)
- Goska Leslie (ORCID: https://orcid.org/0000-0001-5756-6222)
- Karl Hackmann (ORCID: https://orcid.org/0000-0003-4181-2120)
- Nadia Harbeck (ORCID: https://orcid.org/0000-0002-9744-7372)
- Drakoulis Yannoukakos (ORCID: https://orcid.org/0000-0001-7509-3510)
- Joe Dennis (ORCID: https://orcid.org/0000-0003-4591-1214)
- Christoph Engel (ORCID: https://orcid.org/0000-0002-7247-282X)
- Georgia Chenevix‐Trench (ORCID: https://orcid.org/0000-0002-1878-2587)
- Michael T. Parsons (ORCID: https://orcid.org/0000-0003-3242-8477)
- Douglas F. Easton (ORCID: https://orcid.org/0000-0003-2444-3247)
- Irene Konstantopoulou (ORCID: https://orcid.org/0000-0002-0470-0309)
- Marc Tischkowitz (ORCID: https://orcid.org/0000-0002-7880-0628)
- Daniel R. Barnes (ORCID: https://orcid.org/0000-0002-3781-7570)
- Laura Madanat‐Harjuoja (ORCID: https://orcid.org/0000-0001-5187-526X)
- Bernhard H. F. Weber (ORCID: https://orcid.org/0000-0002-8808-7723)
- Norbert Arnold (ORCID: https://orcid.org/0000-0003-4523-8808)
- Christian Sutter (ORCID: https://orcid.org/0000-0003-4051-5888)
- Emily Zhao (ORCID: https://orcid.org/0000-0003-1307-6402)
- Jan Hauke (ORCID: https://orcid.org/0000-0001-8236-4075)
- Timothy Richard Rebbeck (ORCID: https://orcid.org/0000-0002-4799-1900)
- Marion B. Kiechle (ORCID: https://orcid.org/0000-0003-4237-2657)
- Marta Santamariña (ORCID: https://orcid.org/0000-0001-5616-9946)
- Julia Hentschel (ORCID: https://orcid.org/0000-0002-5706-1424)
- Mark H. Greene (ORCID: https://orcid.org/0000-0003-1852-9239)
- Shuai Li (ORCID: https://orcid.org/0000-0002-8696-8594)
- Dieter Niederacher
- Shan Wang‐Gohrke
- Ana Vega
- Barbara Wappenschmidt
- Louise Izatt
- Eric Hahnen
- Rita K. Schmutzler
- Julia Ritter
- Antonis C. Antoniou
- Jane Horvath
- Manjeet K. Bolla (ORCID: https://orcid.org/0000-0002-4351-9326)
- Kristin Bosse
- Andrea Gehrig
- Antonis C Antoniou on behalf of EMBRACE Collaborators
Institutions
- Nottingham University Hospitals NHS Trust (GB)
- University of Helsinki (FI)
- Harvard University (US)
- Leipzig University of Applied Sciences (DE)
- The University of Melbourne (AU)
- Nanyang Technological University (SG)
- University of Cologne (DE)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- National Centre of Scientific Research "Demokritos" (GR)
- QIMR Berghofer Medical Research Institute (AU)
- Heidelberg University (DE)
- University of Münster (DE)
- University of Cambridge (GB)
- University of Würzburg (DE)
- Manchester Academic Health Science Centre (GB)
- Helsinki University Hospital (FI)
- University Hospital Heidelberg (DE)
- TUM Klinikum (DE)
- University of Manchester (GB)
- University Hospital Regensburg (DE)
- Christian-Albrechts-Universität zu Kiel (DE)
- Medizinische Hochschule Hannover (DE)
- National Institute for Health and Care Research (GB)
- National Cancer Centre Japan (JP)
- Düsseldorf University Hospital (DE)
- Cancer Research UK Cambridge Center (GB)
- Helsinki Children's Hospital (FI)
- Finnish Cancer Registry (FI)
- Manchester University NHS Foundation Trust (GB)
- Complejo Hospitalario Universitario de Santiago (ES)
- St Mary's Hospital (GB)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Dana-Farber Cancer Institute (US)
- Institute of Human Genetics (PL)
- Monash Health (AU)
- München Klinik (DE)
- Fundación Pública Galega de Medicina Xenómica (ES)
- University Hospital Leipzig (DE)
- National Cancer Centre Singapore (SG)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- National Cancer Institute (US)
- Cancer Genetics (United States) (US)
- Instituto de Investigación Sanitaria de Santiago (ES)
- University Hospital Cologne (DE)
- University Hospital Ulm (DE)
- Servicio Gallego de Salud (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
- University Hospital Carl Gustav Carus (DE)
- Sheffield Children's Hospital (GB)
- Division of Cancer Epidemiology and Genetics
- Heinrich Heine University Düsseldorf (DE)
- McGill University (CA)
- Life University (US)
- Monash University (AU)
- University of Regensburg (DE)
- Technical University of Munich (DE)
- Technische Universität Dresden (DE)
- Charité - Universitätsmedizin Berlin (DE)
- University of Tübingen (DE)
- Ludwig-Maximilians-Universität München (DE)
- Leipzig University (DE)
Publication Details
- Journal
- JNCI Journal of the National Cancer Institute
- Published
- 2024-11-25
- DOI
- https://doi.org/10.1093/jnci/djae306
- Citations
- 5
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 2.75
Funders
- Lee Foundation
- Royal Marsden NHS Foundation Trust
- Gray Foundation
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- European Commission
- Bundesministerium für Bildung und Forschung
- Terry Fox Foundation
- General Secretariat for Research and Technology
- Deutsche Krebshilfe
- Vedecká Grantová Agentúra MŠVVaŠ SR a SAV
- Freistaat Sachsen
- National Institutes of Health
- Medical Research Council
- National Health and Medical Research Council
- National Medical Research Council
- Instituto de Salud Carlos III
- European Regional Development Fund
- NIHR Cambridge Biomedical Research Centre
- National Cancer Institute
- European Social Fund