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Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

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Title: Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Authors: Johnatty SE; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Tudini E; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.; These authors contributed equally., Parsons MT; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.; These authors contributed equally., Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; These authors contributed equally., Zanti M; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; These authors contributed equally., Canson D; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Davidson AL; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Berger T; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA., Rosti RO; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, 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, Maryland, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Richardson M; Ambry Genetics, Aliso Viejo, California, USA., Pesaran T; Ambry Genetics, Aliso Viejo, California, 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, Pennsylvania, USA.; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Nathanson K; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Domchek S; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, 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., Garcia-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, Texas, 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, New South Wales, Australia., Blok LS; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, New South Wales, Australia., Tucker K; Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia., Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, New York, USA., Cancio MI; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Kennedy JA; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., MacMillan ML; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Tryon R; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Genetics, M Health Fairview, Minneapolis, Minnesota, USA., Wagner JE; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Boddicker NJ; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, Minnesota, USA., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Weitzel JN; University of Kansas Cancer Center, Kansas City, Kansas, USA., Dingemans AJM; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Hadler J; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Rotenberg N; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Ramadane-Morchadi L; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., de la 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, Victoria, 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, Maryland, 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, Minnesota, USA., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA., Nelson A; School of Women's and Children's Health, University of New South Wales, New South Wales, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia., Ngeow J; Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore.; Cancer Genetics Service, National Cancer Center, Singapore., Tischkowitz M; Department of Medical Genetics, 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, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 May 26. Date of Electronic Publication: 2025 May 26.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
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  Data: <searchLink fieldCode="AU" term="%22Johnatty+SE%22">Johnatty SE</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Tudini+E%22">Tudini E</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Parsons+MT%22">Parsons MT</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Michailidou+K%22">Michailidou K</searchLink>; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Zanti+M%22">Zanti M</searchLink>; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Canson+D%22">Canson D</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Davidson+AL%22">Davidson AL</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Berger+T%22">Berger T</searchLink>; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Rosti+RO%22">Rosti RO</searchLink>; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Kratz+CP%22">Kratz CP</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Kalb+R%22">Kalb R</searchLink>; Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22McReynolds+LJ%22">McReynolds LJ</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Giri+N%22">Giri N</searchLink>; 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Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore.; Cancer Genetics Service, National Cancer Center, Singapore.<br /><searchLink fieldCode="AU" term="%22Tischkowitz+M%22">Tischkowitz M</searchLink>; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Gomez-Garcia+E%22">Gomez-Garcia E</searchLink>; Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Spurdle+AB%22">Spurdle AB</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
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      – PersonEntity:
          Name:
            NameFull: Boddicker NJ
      – PersonEntity:
          Name:
            NameFull: Hu C
      – PersonEntity:
          Name:
            NameFull: Weitzel JN
      – PersonEntity:
          Name:
            NameFull: Dingemans AJM
      – PersonEntity:
          Name:
            NameFull: Hadler J
      – PersonEntity:
          Name:
            NameFull: Rotenberg N
      – PersonEntity:
          Name:
            NameFull: Ramadane-Morchadi L
      – PersonEntity:
          Name:
            NameFull: de la Hoya M
      – PersonEntity:
          Name:
            NameFull: James P
      – PersonEntity:
          Name:
            NameFull: Van Overeem Hansen T
      – PersonEntity:
          Name:
            NameFull: Vreeswijk MPG
      – PersonEntity:
          Name:
            NameFull: Walker LC
      – PersonEntity:
          Name:
            NameFull: Sharan SK
      – PersonEntity:
          Name:
            NameFull: Easton DF
      – PersonEntity:
          Name:
            NameFull: Couch F
      – PersonEntity:
          Name:
            NameFull: Smogorzewska A
      – PersonEntity:
          Name:
            NameFull: Nelson A
      – PersonEntity:
          Name:
            NameFull: Ngeow J
      – PersonEntity:
          Name:
            NameFull: Tischkowitz M
      – PersonEntity:
          Name:
            NameFull: Gomez-Garcia E
      – PersonEntity:
          Name:
            NameFull: Spurdle AB
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 26
              M: 05
              Text: 2025 May 26
              Type: published
              Y: 2025
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1