BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
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| Title: | BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. |
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| Authors: | Johnatty SE; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Tudini E; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Parsons MT; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Michailidou K; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus., Zanti M; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus., Canson DM; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Davidson AL; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Berger T; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Rosti RO; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kalb R; Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Surrallés J; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain., Pujol R; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain., Vundinti BR; ICMR-National Institute of Immunohaematology, Mumbai, India., George M; ICMR-National Institute of Immunohaematology, Mumbai, India., Maxwell KN; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Nathanson K; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Domchek S; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Fiesco-Roa MÓ; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM, Mexico City, Mexico., Frias S; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico., García-de-Teresa B; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico., Jongmans M; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Maiburg M; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK., Robinson R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Blok LS; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia., Tucker K; Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Auerbach AD; Human Genetics and Hematology Program, the Rockefeller University, New York, NY, USA., Cancio MI; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Kennedy JA; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., MacMillan ML; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Tryon R; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA; Department of Genetics, M Health Fairview, Minneapolis, MN, USA., Wagner JE; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Boddicker NJ; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Weitzel JN; University of Kansas Cancer Center, Kansas City, KS, USA., Dingemans AJM; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Hadler J; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Rotenberg N; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Ramadane-Morchadi L; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., James P; Sir Peter MacCallum Department of Oncology, the University of Melbourne, Melbourne, VIC, Australia., Van Overeem Hansen T; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Sharan SK; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA., Easton DF; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK; Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Smogorzewska A; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Nelson A; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Ngeow J; Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore; Cancer Genetics Service, National Cancer Center, Singapore, Singapore., Tischkowitz M; Department of Genomic Medicine, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Gomez-Garcia E; Maastricht University, Maastricht, the Netherlands., Spurdle AB; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au. |
| Corporate Authors: | CARRIERS Consortium; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Breast Cancer Association Consortium; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., ENIGMA Consortium; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia. |
| Source: | American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2902-2921. Date of Electronic Publication: 2025 Oct 30. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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