机译:BRCA1 BRCA1和BRCA2 BRCA2变体的大规模多因素似然性分析:支持临床变体分类的谜资源
Department of Genetics and Computational BiologyQIMR Berghofer Medical Research InstituteBrisbane;
Department of Genetics and Computational BiologyQIMR Berghofer Medical Research InstituteBrisbane;
Cancer Control and Population Science Huntsman Cancer InstituteUniversity of UtahSalt Lake City;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Clinical GeneticsAmsterdam UMCAmsterdam The Netherlands;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Department of Clinical Genetics Helsinki University HospitalUniversity of HelsinkiHelsinki Finland;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Clinical Genetics Hospital Universitario de la PrincesaInstituto de Investigación SanitariaMadrid;
Department of Gynaecology and Obstetrics University Hospital of Schleswig‐Holstein Campus;
Institute of Human GeneticsHannover Medical SchoolHannover Germany;
Genetic Health QueenslandRoyal Brisbane and Women's HospitalBrisbane Australia;
Unit of Medical Genetics Department of Medical Oncology and HematologyFondazione IRCCS Istituto;
High Risk and Cancer Prevention GroupVall d'Hebron Institute of OncologyBarcelona Spain;
Department of Oncology and HaematologyUniversity of Modena and Reggio EmiliaModena Italy;
Institute of Human GeneticsUniversity Hospital HeidelbergHeidelberg Germany;
Fundación Pública galega Medicina Xenómica‐SERGASGrupo de Medicina Xenómica‐USC CIBERER;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO)Barcelona Spain;
Division of Cancer Prevention and Genetics IEOEuropean Institute of Oncology IRCCSMilan Italy;
Division of Oncology and Pathology Department of Clinical Sciences LundLund UniversityLund Sweden;
Division of OncologyUniversity Hospital of ParmaParma Italy;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Unit of Hereditary CancerIRCCS Ospedale Policlinico San MartinoGenoa Italy;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Unit of Medical Genetics Department of Medical Oncology and HematologyFondazione IRCCS Istituto;
Molecular Oncology Laboratory CIBERONC Hospital Clinico San CarlosIdISSC (Instituto de;
Institute of Human Genetics University Hospital of Schleswig‐Holstein Campus KielChristian;
SOD Genetica MolecolareUniversity HospitalPisa Italy;
Division of Cancer Prevention and Genetics IEOEuropean Institute of Oncology IRCCSMilan Italy;
Department of Experimental and Clinical Biomedical Sciences 'Mario Serio' Medical Genetics;
Service de GénétiqueInstitut CurieParis France;
UO Anatomia PatologicaOspedale di Circolo ASST SettelaghiVarese Italy;
High Risk and Cancer Prevention GroupVall d'Hebron Institute of OncologyBarcelona Spain;
Service de GénétiqueInstitut CurieParis France;
Servizio di GeneticaASST di CremonaCremona Italy;
Division of Functional Onco‐genomics and Genetics Centro di Riferimento Oncologico di Aviano (CRO;
Department of Genetics and Computational BiologyQIMR Berghofer Medical Research InstituteBrisbane;
Fondazione Policlinico Universitario A.GemelliIRCCSRome Italy;
Parkville Familial Cancer CentrePeter MacCallum Cancer CenterMelbourne Victoria Australia;
Department of Oncology and HaematologyUniversity of Modena and Reggio EmiliaModena Italy;
Department of Laboratory Medicine and PathologyMayo ClinicRochester Minnesota;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Molecular Oncology Laboratory CIBERONC Hospital Clinico San CarlosIdISSC (Instituto de;
Laboratory of Translational Genomics DCEGNational Cancer InstituteGaithersburg Maryland;
Institute of Human GeneticsUniversity Hospital UlmUlm Germany;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Laboratoire de Genetique MoleculaireCHU NantesNantes France;
Service de GénétiqueInstitut CurieParis France;
Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO)Barcelona Spain;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Basser Center for BRCA Abramson Cancer CenterUniversity of PennsylvaniaPhiladelphia Pennsylvania;
Institute of Medical and Human GeneticsCharité –Universit?tsmedizin BerlinBerlin Germany;
Faculty of MedicineUniversity of SouthamptonSouthampton UK;
Department of Clinical Genetics and Pathology Laboratory MedicineOffice for Medical Services ‐;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Genomic Medicine Division of Evolution and Genomic Sciences The University of Manchester;
Medical GeneticsAmerican University of Beirut Medical CenterBeirut Lebanon;
Institute of Medical Genetics and Applied GenomicsUniversity of TübingenTübingen Germany;
Institute of Human GeneticsUniversity Medicine GreifswaldGreifswald Germany;
Division of Cancer Prevention and Genetics IEOEuropean Institute of Oncology IRCCSMilan Italy;
Adult Genetics UnitRoyal Adelaide HospitalAdelaide Australia;
Program in Cancer Genetics Departments of Human Genetics and OncologyMcGill UniversityMontréal QC;
Oncogenetics DepartmentBarretos Cancer HospitalS?o Paulo Brazil;
SOD Genetica MolecolareUniversity HospitalPisa Italy;
Department of Human GeneticsUniversity of WürzburgWürzburg Germany;
Department of Experimental and Clinical Biomedical Sciences 'Mario Serio' Medical Genetics;
Department of Clinical Genetics RigshospitaletCopenhagen University HospitalCopenhagen Denmark;
Department of Clinical and Molecular Medicine Sant'Andrea University HospitalSapienza;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Unit of Hereditary CancerIRCCS Ospedale Policlinico San MartinoGenoa Italy;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Clinical GeneticsMaastricht University Medical CenterMaastricht The Netherlands;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Division of Cancer Prevention and Genetics IEOEuropean Institute of Oncology IRCCSMilan Italy;
Departement de Biopathologie Gustave RoussyUniversite Paris‐SaclayVillejuif France;
Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO)Barcelona Spain;
Department of Human GeneticsUniversity of WürzburgWürzburg Germany;
Institute for Clinical Genetics Faculty of Medicine Carl Gustav CarusTU DresdenDresden Germany;
Department of Clinical Genetics RigshospitaletCopenhagen University HospitalCopenhagen Denmark;
Familial Cancer CentreMonash HealthClayton Australia;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Institute of Medical Genetics and Applied GenomicsUniversity of TübingenTübingen Germany;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
The City of HopeDuarte California;
Department of Gynecology and Obstetrics University Hospital DüsseldorfHeinrich‐Heine University D;
Institute of Human GeneticsUniversity of MünsterMünster Germany;
Department of Genetics F76000 and Normandy University UNIROUEN Inserm U1245 Normandy Centre for;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Parkville Familial Cancer CentrePeter MacCallum Cancer CenterMelbourne Victoria Australia;
Department of Clinical GeneticsLeiden University Medical CenterLeiden The Netherlands;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Institute of Human GeneticsUniversity Medical Center G?ttingenG?ttingen Germany;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Laboratoire de Biologie Clinique et OncologiqueCentre Francois BaclesseCaen France;
Department of Clinical GeneticsOdense University HospitalOdense C Denmark;
Division of Oncology and Pathology Department of Clinical Sciences LundLund UniversityLund Sweden;
Genomic Medicine North West Genomics hub Manchester Academic Health Science Centre Manchester;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Department of Pathology and Biomedical ScienceUniversity of OtagoChristchurch New Zealand;
Department of Clinical GeneticsAalborg University HospitalAalborg Denmark;
Institute of Human GeneticsUniversity of MünsterMünster Germany;
Department of Gynaecology and ObstetricsUniversity Hospital UlmUlm Germany;
Peter MacCallum Cancer CentreMelbourne Victoria Australia;
Breast Cancer Research ProgrammeCancer Research MalaysiaSubang Jaya Selangor Malaysia;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
High Risk and Cancer Prevention GroupVall d'Hebron Institute of OncologyBarcelona Spain;
UOC Genetica Medica Fondazione Policlinico Universitario A.Gemelli IRCCS and Istituto di Medicina;
Department of Gynaecology and Obstetrics University Hospital of Schleswig‐Holstein Campus;
Unit of Medical Genetics Department of Medical Oncology and HematologyFondazione IRCCS Istituto;
Division of Cancer Prevention and Genetics IEOEuropean Institute of Oncology IRCCSMilan Italy;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Oncogenetics DepartmentBarretos Cancer HospitalS?o Paulo Brazil;
Department of Clinical GeneticsLeiden University Medical CenterLeiden The Netherlands;
Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO)Barcelona Spain;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO)Barcelona Spain;
Department of Cancer EpidemiologyMoffitt Cancer CenterTampa Florida;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Clinical and Experimental Science University of Brescia c/o 2nd Internal;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Department of Human GeneticsUniversity of WürzburgWürzburg Germany;
Department of Gynaecology and Obstetrics University Hospital of Schleswig‐Holstein Campus;
Division of OncologyUniversity Hospital of ParmaParma Italy;
Basser Center for BRCA Abramson Cancer CenterUniversity of PennsylvaniaPhiladelphia Pennsylvania;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Obstetrics and Gynecology Helsinki University HospitalUniversity of HelsinkiHelsinki;
Genetic Services of Western AustraliaKing Edward Memorial HospitalPerth Australia;
Department of Gynecology and Obstetrics University Hospital DüsseldorfHeinrich‐Heine University D;
Department of Clinical GeneticsOdense University HospitalOdense C Denmark;
West Midlands Regional Genetics ServiceBirmingham Women's Hospital Healthcare NHS TrustBirmingham UK;
Genetic Services of Western AustraliaKing Edward Memorial HospitalPerth Australia;
Molecular Oncology Research CenterBarretos Cancer HospitalS?o Paulo Brazil;
Department of Experimental and Clinical Biomedical Sciences 'Mario Serio' Medical Genetics;
Clinical Cancer Research CenterAalborg University HospitalAalborg Denmark;
Unit of Medical Genetics Department of Medical Oncology and HematologyFondazione IRCCS Istituto;
Molecular Oncology Laboratory CIBERONC Hospital Clinico San CarlosIdISSC (Instituto de;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Adult Genetics UnitRoyal Adelaide HospitalAdelaide Australia;
Department of Experimental and Clinical Biomedical Sciences 'Mario Serio' Medical Genetics;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
Division of Gynaecology and Obstetrics Klinikum rechts der Isar der TechnischenUniversit?t M;
Molecular Oncology Research CenterBarretos Cancer HospitalS?o Paulo Brazil;
Laboratoire d'Oncogenetique Moleculaire HumaineCentre Oscar LambretLille France;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Servizio di GeneticaASST di CremonaCremona Italy;
Institute of Medical and Human GeneticsCharité –Universit?tsmedizin BerlinBerlin Germany;
Unit of Hereditary CancerIRCCS Ospedale Policlinico San MartinoGenoa Italy;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Institute for Clinical Genetics Faculty of Medicine Carl Gustav CarusTU DresdenDresden Germany;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Servicio de Análisis Clínicos y Bioquímica Clínica Complejo HospitalarioUniversitario Insular;
Institute of Human GeneticsHannover Medical SchoolHannover Germany;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Institute of Human GeneticsUniversity of MünsterMünster Germany;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Institute of Human GeneticsHannover Medical SchoolHannover Germany;
Institute of Human GeneticsUniversity Hospital LeipzigLeipzig Germany;
Service de GénétiqueInstitut CurieParis France;
Genetic Health Service NZ‐ Northern HubAuckland District Health BoardAuckland New Zealand;
Genetic Health QueenslandRoyal Brisbane and Women's HospitalBrisbane Australia;
Institute of Human GeneticsUniversity Hospital HeidelbergHeidelberg Germany;
Department of Oncological ServicesUniversity of Utah School of MedicineSalt Lake City Utah;
Breast Cancer Research ProgrammeCancer Research MalaysiaSubang Jaya Selangor Malaysia;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Clinical GeneticsOdense University HospitalOdense C Denmark;
UO Anatomia PatologicaOspedale di Circolo ASST SettelaghiVarese Italy;
Department of Medical GeneticsUniversity of CambridgeCambridge UK;
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOVIRCCSPadua Italy;
Department of Cancer Biology and GeneticsThe Ohio State UniversityColumbus Ohio;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Division of Oncology and Pathology Department of Clinical Sciences LundLund UniversityLund Sweden;
High Risk and Cancer Prevention GroupVall d'Hebron Institute of OncologyBarcelona Spain;
Department of Oncology and HaematologyUniversity of Modena and Reggio EmiliaModena Italy;
Parkville Familial Cancer CentrePeter MacCallum Cancer CenterMelbourne Victoria Australia;
Prince of Wales Clinical SchoolUniversity of NSWSydney New South Wales Australia;
Department of Clinical GeneticsLeiden University Medical CenterLeiden The Netherlands;
Department of Gynaecology and Obstetrics University Hospital of Schleswig‐Holstein Campus;
Unit of Hereditary CancerIRCCS Ospedale Policlinico San MartinoGenoa Italy;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Institute of Medical and Human GeneticsCharité –Universit?tsmedizin BerlinBerlin Germany;
Fundación Pública galega Medicina Xenómica‐SERGASGrupo de Medicina Xenómica‐USC CIBERER;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Department of Gynecology and Obstetrics University Hospital DüsseldorfHeinrich‐Heine University D;
Division of Functional Onco‐genomics and Genetics Centro di Riferimento Oncologico di Aviano (CRO;
Department of Human GeneticsLeiden University Medical CenterLeiden The Netherlands;
Department of MedicineHematology/Oncology Goethe‐University FrankfurtFrankfurt Germany;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Department of Pathology and Biomedical ScienceUniversity of OtagoChristchurch New Zealand;
Department of Genetics and Computational BiologyQIMR Berghofer Medical Research InstituteBrisbane;
Department of Gynaecology and ObstetricsUniversity Hospital UlmUlm Germany;
Institute of Human GeneticsUniversity RegensburgRegensberg Germany;
Institute of PathologyTechnische Universit?t MünchenMunich Germany;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Department of Gynaecology and ObstetricsUniversity Hospital UlmUlm Germany;
Department of GynecologyUniversity Medical Center HamburgHamburg Germany;
Department of Gynecology and ObstetricsUniversity Hospital WürzburgWürzburg Germany;
Genomic Medicine Division of Evolution and Genomic Sciences The University of Manchester;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Biosciences LaboratoryIstituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST;
Department of Gynecology and ObstetricsUniversity of MunichMunich Germany;
Sir Peter MacCallum Department of OncologyThe University of MelbourneMelbourne Victoria Australia;
Hereditary Cancer Program ONCOBELL‐IDIBELL‐IDIBGI‐IGTP Catalan Institute of;
Cancer Genomics ProgramVeneto Institute of Oncology IOV‐IRCCSPadua Italy;
Unit of Molecular Bases of Genetic Risk and Genetic Testing Department of ResearchFondazione IRCCS;
Institute for Medical Informatics Statistics and EpidemiologyUniversity of LeipzigLeipzig Germany;
Center for Familial Breast and Ovarian Cancer Faculty of Medicine and University Hospital;
Department of Dermatology Huntsman Cancer InstituteUniversity of Utah School of MedicineSalt Lake;
Department of Genetics and Computational BiologyQIMR Berghofer Medical Research InstituteBrisbane;
BRCA1; BRCA2; classification; clinical; multifactorial; quantitative; uncertain significance; variant;
机译:BRCA1 BRCA1和BRCA2 BRCA2变体的大规模多因素似然性分析:支持临床变体分类的谜资源
机译:乳腺癌患者中具有不确定意义的BRCA1和BRCA2变异体的比较分析:基于多因素概率的模型与ACMG标准和解释序列变异体的指南
机译:内含子BRCA1和BRCA2序列变异体的剪接和多因素分析可鉴定出距内含子/外显子边界多达12个核苷酸的临床显着剪接畸变。
机译:利用微阵列基因表达数据对BRCA1 / BRCA2肿瘤进行多元分类的比较研究
机译:BRCA1和BRCA2突变载体对BRCA突变的直接消费遗传检测的视角
机译:BRCA1和BRCA2变异的大规模多因素似然定量分析:一种ENIGMA资源可支持临床变异分类
机译:BRCa1和BRCa2错义变体的多因子可能性评估证实BRCa1:c.122a> G(p.His41arg)是致病突变。