Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification-Reference-Cited by-同舟云学术

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Published:2019-09 Issue:9 Volume:40 Page:1557-1578
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Parsons Michael T.¹^ORCID,Tudini Emma¹,Li Hongyan²,Hahnen Eric³⁴,Wappenschmidt Barbara³⁴,Feliubadaló Lidia⁵,Aalfs Cora M.⁶,Agata Simona⁷,Aittomäki Kristiina⁸,Alducci Elisa⁷,Alonso‐Cerezo María Concepción⁹,Arnold Norbert¹⁰¹¹,Auber Bernd¹²,Austin Rachel¹³,Azzollini Jacopo¹⁴,Balmaña Judith¹⁵¹⁶,Barbieri Elena¹⁷,Bartram Claus R.¹⁸,Blanco Ana¹⁹,Blümcke Britta³⁴,Bonache Sandra²⁰,Bonanni Bernardo²¹,Borg Åke²²,Bortesi Beatrice²³,Brunet Joan⁵,Bruzzone Carla²⁴,Bucksch Karolin²⁵,Cagnoli Giulia¹⁴,Caldés Trinidad²⁶,Caliebe Almuth²⁷,Caligo Maria A.²⁸,Calvello Mariarosaria²¹,Capone Gabriele L.²⁹,Caputo Sandrine M.³⁰³¹,Carnevali Ileana³²,Carrasco Estela¹⁵,Caux‐Moncoutier Virginie³⁰,Cavalli Pietro³³,Cini Giulia³⁴,Clarke Edward M.¹,Concolino Paola³⁵,Cops Elisa J.³⁶,Cortesi Laura¹⁷,Couch Fergus J.³⁷,Darder Esther⁵,Hoya Miguel²⁶^ORCID,Dean Michael³⁸,Debatin Irmgard³⁹,Del Valle Jesús⁵,Delnatte Capucine⁴⁰,Derive Nicolas³⁰³¹,Diez Orland²⁰⁴¹^ORCID,Ditsch Nina⁴²,Domchek Susan M.⁴³,Dutrannoy Véronique⁴⁴,Eccles Diana M.⁴⁵^ORCID,Ehrencrona Hans⁴⁶⁴⁷,Enders Ute²⁵,Evans D. Gareth⁴⁸⁴⁹,Farra Chantal⁵⁰,Faust Ulrike⁵¹,Felbor Ute⁵²,Feroce Irene²¹,Fine Miriam⁵³,Foulkes William D.⁵⁴,Galvao Henrique C.R.⁵⁵,Gambino Gaetana²⁸,Gehrig Andrea⁵⁶,Gensini Francesca²⁹,Gerdes Anne‐Marie⁵⁷,Germani Aldo⁵⁸,Giesecke Jutta³⁴,Gismondi Viviana²⁴,Gómez Carolina⁵,Garcia Encarna B.⁵⁹,González Sara⁵,Grau Elia⁵,Grill Sabine⁶⁰,Gross Eva⁴²,Guerrieri‐Gonzaga Aliana²¹,Guillaud‐Bataille Marine⁶¹,Gutiérrez‐Enríquez Sara²⁰^ORCID,Haaf Thomas⁵⁶,Hackmann Karl⁶²,Hansen Thomas V.O.⁵⁷,Harris Marion⁶³,Hauke Jan³⁴,Heinrich Tilman⁵¹,Hellebrand Heide⁶⁰,Herold Karen N.⁶⁴,Honisch Ellen⁶⁵,Horvath Judit⁶⁶,Houdayer Claude⁶⁷,Hübbel Verena³⁴,Iglesias Silvia⁵,Izquierdo Angel⁵,James Paul A.³⁶⁶⁸,Janssen Linda A.M.⁶⁹,Jeschke Udo⁴²,Kaulfuß Silke⁷⁰,Keupp Katharina³⁴,Kiechle Marion⁶⁰,Kölbl Alexandra⁴²,Krieger Sophie⁷¹⁷²⁷³,Kruse Torben A.⁷⁴,Kvist Anders²²,Lalloo Fiona⁴⁹,Larsen Mirjam³⁴,Lattimore Vanessa L.⁷⁵,Lautrup Charlotte⁷⁶⁷⁷,Ledig Susanne⁶⁶,Leinert Elena⁷⁸,Lewis Alexandra L.⁷⁹,Lim Joanna⁸⁰,Loeffler Markus²⁵,López‐Fernández Adrià¹⁵,Lucci‐Cordisco Emanuela⁸¹,Maass Nicolai¹⁰,Manoukian Siranoush¹⁴,Marabelli Monica²¹,Matricardi Laura⁷,Meindl Alfons⁴²,Michelli Rodrigo D.⁵⁵,Moghadasi Setareh⁶⁹,Moles‐Fernández Alejandro²⁰,Montagna Marco⁷,Montalban Gemma²⁰,Monteiro Alvaro N.⁸²,Montes Eva⁵,Mori Luigi⁸³,Moserle Lidia⁷,Müller Clemens R.⁵⁶,Mundhenke Christoph¹⁰,Naldi Nadia²³,Nathanson Katherine L.⁴³,Navarro Matilde⁵,Nevanlinna Heli⁸⁴,Nichols Cassandra B.⁸⁵,Niederacher Dieter⁶⁵,Nielsen Henriette R.⁷⁴,Ong Kai‐ren⁸⁶,Pachter Nicholas⁸⁵⁸⁷,Palmero Edenir I.⁸⁸⁸⁹,Papi Laura²⁹,Pedersen Inge Sokilde⁷⁷⁹⁰⁹¹,Peissel Bernard¹⁴,Perez‐Segura Pedro²⁶,Pfeifer Katharina⁶⁰,Pineda Marta⁵,Pohl‐Rescigno Esther³⁴,Poplawski Nicola K.⁵³⁹²,Porfirio Berardino²⁹,Quante Anne S.⁶⁰,Ramser Juliane⁶⁰,Reis Rui M.⁸⁸⁹³⁹⁴,Revillion Françoise⁹⁵,Rhiem Kerstin³⁴,Riboli Barbara³³,Ritter Julia⁴⁴,Rivera Daniela²⁴,Rofes Paula⁵,Rump Andreas⁶²,Salinas Monica⁵,Sánchez de Abajo Ana María⁹⁶,Schmidt Gunnar¹²,Schoenwiese Ulrike²⁵,Seggewiß Jochen⁶⁶,Solanes Ares⁵,Steinemann Doris¹²,Stiller Mathias⁹⁷,Stoppa‐Lyonnet Dominique³⁰⁹⁸⁹⁹,Sullivan Kelly J.¹⁰⁰,Susman Rachel¹³^ORCID,Sutter Christian¹⁸,Tavtigian Sean V.¹⁰¹¹⁰²^ORCID,Teo Soo H.⁸⁰¹⁰³,Teulé Alex⁵,Thomassen Mads⁷⁴,Tibiletti Maria Grazia³²,Tischkowitz Marc¹⁰⁴,Tognazzo Silvia⁷,Toland Amanda E.¹⁰⁵^ORCID,Tornero Eva⁵,Törngren Therese²²,Torres‐Esquius Sara¹⁵,Toss Angela¹⁷^ORCID,Trainer Alison H.³⁶¹⁰⁶,Tucker Katherine M.¹⁰⁷¹⁰⁸,Asperen Christi J.⁶⁹,Mackelenbergh Marion T.¹⁰,Varesco Liliana²⁴,Vargas‐Parra Gardenia⁵,Varon Raymonda⁴⁴,Vega Ana¹⁹^ORCID,Velasco Ángela⁵,Vesper Anne‐Sophie⁶⁵,Viel Alessandra³⁴,Vreeswijk Maaike P. G.¹⁰⁹^ORCID,Wagner Sebastian A.¹¹⁰,Waha Anke³⁴,Walker Logan C.⁷⁵,Walters Rhiannon J.¹,Wang‐Gohrke Shan⁷⁸,Weber Bernhard H. F.¹¹¹,Weichert Wilko¹¹²,Wieland Kerstin²⁵,Wiesmüller Lisa⁷⁸,Witzel Isabell¹¹³,Wöckel Achim¹¹⁴,Woodward Emma R.⁴⁸⁴⁹^ORCID,Zachariae Silke²⁵,Zampiga Valentina¹¹⁵,Zeder‐Göß Christine⁴²,Investigators KConFab⁶⁸¹¹⁶,Lázaro Conxi⁵,Nicolo Arcangela¹¹⁷,Radice Paolo¹¹⁸^ORCID,Engel Christoph²⁵,Schmutzler Rita K.³⁴,Goldgar David E.¹¹⁹,Spurdle Amanda B.¹^ORCID

Affiliation:

1. Department of Genetics and Computational BiologyQIMR Berghofer Medical Research Institute Brisbane Queensland Australia

2. Cancer Control and Population Science, Huntsman Cancer InstituteUniversity of Utah Salt Lake City Utah

3. Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital CologneUniversity of Cologne Cologne Germany

4. Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital CologneUniversity of Cologne Cologne Germany

5. Hereditary Cancer Program, ONCOBELL‐IDIBELL‐IDIBGI‐IGTP, Catalan Institute of OncologyCIBERONC Barcelona Spain

6. Department of Clinical GeneticsAmsterdam UMC Amsterdam The Netherlands

7. Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOVIRCCS Padua Italy

8. Department of Clinical Genetics, Helsinki University HospitalUniversity of Helsinki Helsinki Finland

9. Clinical Genetics, Hospital Universitario de la PrincesaInstituto de Investigación Sanitaria Madrid Spain

10. Department of Gynaecology and Obstetrics, University Hospital of Schleswig‐Holstein, Campus KielChristian‐Albrechts University Kiel Kiel Germany

11. Institute of Clinical Molecular Biology, University Hospital of Schleswig‐Holstein, Campus KielChristian‐Albrechts University Kiel Kiel Germany

12. Institute of Human GeneticsHannover Medical School Hannover Germany

13. Genetic Health QueenslandRoyal Brisbane and Women's Hospital Brisbane Australia

14. Unit of Medical Genetics, Department of Medical Oncology and HematologyFondazione IRCCS Istituto Nazionale dei Tumori di Milano Milan Italy

15. High Risk and Cancer Prevention GroupVall d'Hebron Institute of Oncology Barcelona Spain

16. Department of Medical OncologyUniversity Hospital of Vall d'Hebron Barcelona Spain

17. Department of Oncology and HaematologyUniversity of Modena and Reggio Emilia Modena Italy

18. Institute of Human GeneticsUniversity Hospital Heidelberg Heidelberg Germany

19. Fundación Pública galega Medicina Xenómica‐SERGASGrupo de Medicina Xenómica‐USC, CIBERER, IDIS Santiago de Compostela Spain

20. Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO) Barcelona Spain

21. Division of Cancer Prevention and Genetics, IEOEuropean Institute of Oncology IRCCS Milan Italy

22. Division of Oncology and Pathology, Department of Clinical Sciences LundLund University Lund Sweden

23. Division of OncologyUniversity Hospital of Parma Parma Italy

24. Unit of Hereditary CancerIRCCS Ospedale Policlinico San Martino Genoa Italy

25. Institute for Medical Informatics, Statistics and EpidemiologyUniversity of Leipzig Leipzig Germany

26. Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San CarlosIdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) Madrid Spain

27. Institute of Human Genetics, University Hospital of Schleswig‐Holstein, Campus KielChristian‐Albrechts University Kiel Kiel Germany

28. SOD Genetica MolecolareUniversity Hospital Pisa Italy

29. Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics UnitUniversity of Florence Florence Italy

30. Service de GénétiqueInstitut Curie Paris France

31. Paris Sciences Lettres Research University Paris France

32. UO Anatomia PatologicaOspedale di Circolo ASST Settelaghi Varese Italy

33. Servizio di GeneticaASST di Cremona Cremona Italy

34. Division of Functional Onco‐genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO)IRCCS Aviano Italy

35. Fondazione Policlinico Universitario A.GemelliIRCCS Rome Italy

36. Parkville Familial Cancer CentrePeter MacCallum Cancer Center Melbourne Victoria Australia

37. Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota

38. Laboratory of Translational Genomics, DCEGNational Cancer Institute Gaithersburg Maryland

39. Institute of Human GeneticsUniversity Hospital Ulm Ulm Germany

40. Laboratoire de Genetique MoleculaireCHU Nantes Nantes France

41. Clinical and Molecular Genetics AreaUniversity Hospital Vall d'Hebron Barcelona Spain

42. Department of Gynecology and ObstetricsUniversity of Munich Munich Germany

43. Basser Center for BRCA, Abramson Cancer CenterUniversity of Pennsylvania Philadelphia Pennsylvania

44. Institute of Medical and Human GeneticsCharité –Universitätsmedizin Berlin Berlin Germany

45. Faculty of MedicineUniversity of Southampton Southampton UK

46. Department of Clinical Genetics and Pathology, Laboratory MedicineOffice for Medical Services ‐ Region Skåne Lund Sweden

47. Division of Clinical Genetics, Department of Laboratory MedicineLund University Lund Sweden

48. Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation TrustSt. Mary's Hospital Manchester UK

49. Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation TrustSt. Mary's Hospital Manchester UK

50. Medical GeneticsAmerican University of Beirut Medical Center Beirut Lebanon

51. Institute of Medical Genetics and Applied GenomicsUniversity of Tübingen Tübingen Germany

52. Institute of Human GeneticsUniversity Medicine Greifswald Greifswald Germany

53. Adult Genetics UnitRoyal Adelaide Hospital Adelaide Australia

54. Program in Cancer Genetics, Departments of Human Genetics and OncologyMcGill University Montréal QC Canada

55. Oncogenetics DepartmentBarretos Cancer Hospital São Paulo Brazil

56. Department of Human GeneticsUniversity of Würzburg Würzburg Germany

57. Department of Clinical Genetics, RigshospitaletCopenhagen University Hospital Copenhagen Denmark

58. Department of Clinical and Molecular Medicine, Sant'Andrea University HospitalSapienza University Rome Italy

59. Department of Clinical GeneticsMaastricht University Medical Center Maastricht The Netherlands

60. Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der TechnischenUniversität München Munich Germany

61. Departement de Biopathologie, Gustave RoussyUniversite Paris‐Saclay Villejuif France

62. Institute for Clinical Genetics, Faculty of Medicine Carl Gustav CarusTU Dresden Dresden Germany

63. Familial Cancer CentreMonash Health Clayton Australia

64. The City of Hope Duarte California

65. Department of Gynecology and Obstetrics, University Hospital DüsseldorfHeinrich‐Heine University Düsseldorf Düsseldorf Germany

66. Institute of Human GeneticsUniversity of Münster Münster Germany

67. Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized MedicineRouen University Hospital Rouen France

68. Sir Peter MacCallum Department of OncologyThe University of Melbourne Melbourne Victoria Australia

69. Department of Clinical GeneticsLeiden University Medical Center Leiden The Netherlands

70. Institute of Human GeneticsUniversity Medical Center Göttingen Göttingen Germany

71. Laboratoire de Biologie Clinique et OncologiqueCentre Francois Baclesse Caen France

72. Genomics and Personalized Medecine in Cancer and Neurological DisordersNormandy Centre for Genomic and Personalized Medicine Rouen France

73. Normandie UniversitéUNICAEN Caen France

74. Department of Clinical GeneticsOdense University Hospital Odense C Denmark

75. Department of Pathology and Biomedical ScienceUniversity of Otago Christchurch New Zealand

76. Department of Clinical GeneticsAalborg University Hospital Aalborg Denmark

77. Clinical Cancer Research CenterAalborg University Hospital Aalborg Denmark

78. Department of Gynaecology and ObstetricsUniversity Hospital Ulm Ulm Germany

79. Peter MacCallum Cancer Centre Melbourne Victoria Australia

80. Breast Cancer Research ProgrammeCancer Research Malaysia Subang Jaya Selangor Malaysia

81. UOC Genetica Medica, Fondazione Policlinico Universitario A.Gemelli IRCCS and Istituto di Medicina GenomicaUniversità Cattolica del Sacro Cuore Rome Italy

82. Department of Cancer EpidemiologyMoffitt Cancer Center Tampa Florida

83. Department of Clinical and Experimental Science, University of Brescia c/o 2nd Internal MedicineHospital of Brescia Brescia Italy

84. Department of Obstetrics and Gynecology, Helsinki University HospitalUniversity of Helsinki Helsinki Finland

85. Genetic Services of Western AustraliaKing Edward Memorial Hospital Perth Australia

86. West Midlands Regional Genetics ServiceBirmingham Women's Hospital Healthcare NHS Trust Birmingham UK

87. Faculty of Health and Medical SciencesUniversity of Western Australia Perth Australia

88. Molecular Oncology Research CenterBarretos Cancer Hospital São Paulo Brazil

89. Barretos School of Health SciencesDr. Paulo Prata ‐ FACISB São Paulo Brazil

90. Molecular DiagnosticsAalborg University Hospital Aalborg Denmark

91. Department of Clinical MedicineAalborg University Aalborg Denmark

92. School of Paediatrics and Reproductive HealthUniversity of Adelaide Adelaide Australia

93. Health Sciences SchoolUniversity of Minho Braga Portugal

94. ICVS/3B's‐PT Government Associate Laboratory Braga Portugal

95. Laboratoire d'Oncogenetique Moleculaire HumaineCentre Oscar Lambret Lille France

96. Servicio de Análisis Clínicos y Bioquímica Clínica, Complejo HospitalarioUniversitario Insular Materno‐Infantil de Gran Canaria Las Palmas de Gran Canaría Spain

97. Institute of Human GeneticsUniversity Hospital Leipzig Leipzig Germany

98. Department of Tumour BiologyINSERM U830 Paris France

99. Université Paris Descartes Paris France

100. Genetic Health Service NZ‐ Northern HubAuckland District Health Board Auckland New Zealand

101. Department of Oncological ServicesUniversity of Utah School of Medicine Salt Lake City Utah

102. Huntsman Cancer InstituteUniversity of Utah Salt Lake City Utah

103. Department of Surgery, Faculty of MedicineUniversity Malaya Kuala Lumpur Malaysia

104. Department of Medical GeneticsUniversity of Cambridge Cambridge UK

105. Department of Cancer Biology and GeneticsThe Ohio State University Columbus Ohio

106. Department of medicineUniversity of Melbourne Melbourne Victoria Australia

107. Prince of Wales Clinical SchoolUniversity of NSW Sydney New South Wales Australia

108. Hereditary Cancer Clinic, Department of Medical OncologyPrince of Wales Hospital Randwick New South Wales Australia

109. Department of Human GeneticsLeiden University Medical Center Leiden The Netherlands

110. Department of MedicineHematology/Oncology, Goethe‐University Frankfurt Frankfurt Germany

111. Institute of Human GeneticsUniversity Regensburg Regensberg Germany

112. Institute of PathologyTechnische Universität München Munich Germany

113. Department of GynecologyUniversity Medical Center Hamburg Hamburg Germany

114. Department of Gynecology and ObstetricsUniversity Hospital Würzburg Würzburg Germany

115. Biosciences LaboratoryIstituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS Meldola Italy

116. Research DepartmentPeter MacCallum Cancer Center Melbourne Victoria Australia

117. Cancer Genomics ProgramVeneto Institute of Oncology IOV‐IRCCS Padua Italy

118. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of ResearchFondazione IRCCS Istituto Nazionale dei Tumori (INT) Milan Italy

119. Department of Dermatology, Huntsman Cancer InstituteUniversity of Utah School of Medicine Salt Lake City Utah

Funder

Canadian Institutes of Health Research

Cancer Research UK

Generalitat de Catalunya

Royal Society of New Zealand

Cancer Council Victoria

Breast Cancer Research Foundation

Fundación Mutua Madrileña

Seventh Framework Programme

Cancer Council South Australia

Cancer Council Tasmania

AstraZeneca

Newcastle University

National Institute for Health Research

Instituto de Salud Carlos III

National Breast Cancer Foundation

National Health and Medical Research Council

Cancer Council NSW

Deutsche Krebshilfe

Fondazione Pisa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23818

Reference49 articles.

1. Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

2. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

3. A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants

4. Cancer Risks in BRCA2 Mutation Carriers

5. Cline M. S. Babbi G. Casadio R. Katsonis P. Lai C. Lichtarge O. … O'Conner R.Manuscript submitted for publication. Assessment of blind predictions of the clinical significance of BRCA variants. Human Mutation.

Cited by 114 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification;2024-09-04

2. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel;The American Journal of Human Genetics;2024-09

3. Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset;The American Journal of Human Genetics;2024-09

4. Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management;Cancer Medicine;2024-08

5. Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing;World Journal of Oncology;2024-08