换一批
换一批Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
作者：
Michael T,Parsons [1]
;
Miguel,de la Hoya [2]
;
Marcy E,Richardson [3]
;
Emma,Tudini [4]
;
Michael,Anderson [5]
;
Windy,Berkofsky-Fessler [6]
;
Sandrine M,Caputo [7]
;
Raymond C,Chan [8]
;
Melissa S,Cline [9]
;
Bing-Jian,Feng [10]
;
Cristina,Fortuno [4]
;
Encarna,Gomez-Garcia [11]
;
Johanna,Hadler [4]
;
Susan,Hiraki [6]
;
Megan,Holdren [12]
;
Claude,Houdayer [13]
;
Kathleen,Hruska [6]
;
Paul,James [14]
;
Rachid,Karam [3]
;
Huei San,Leong [15]
;
Alexandra,Martins [16]
;
Arjen R,Mensenkamp [17]
;
Alvaro N,Monteiro [18]
;
Vaishnavi,Nathan [4]
;
Robert,O'Connor [8]
;
Inge Sokilde,Pedersen [19]
;
Tina,Pesaran [3]
;
Paolo,Radice [20]
;
Gunnar,Schmidt [21]
;
Melissa,Southey [22]
;
Sean,Tavtigian [23]
;
Bryony A,Thompson [24]
;
Amanda E,Toland [25]
;
Clare,Turnbull [26]
;
Maartje J,Vogel [27]
;
Jamie,Weyandt [3]
;
George A R,Wiggins [28]
;
Lauren,Zec [29]
;
Fergus J,Couch [12]
;
Logan C,Walker [28]
;
Maaike P G,Vreeswijk [30]
;
David E,Goldgar [10]
;
Amanda B,Spurdle [31]
作者单位：
Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: michael.parsons@qimrberghofer.edu.au.
[1]
Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, 28040 Madrid Spain.
[2]
Ambry Genetics Corporation, Aliso Viejo, CA 92656, USA.
[3]
Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
[4]
Invitae Corporation, San Francisco, CA, USA.
[5]
GeneDx, Gaithersburg, MD, USA.
[6]
Department of Genetics, Institut Curie, and Paris Sciences Lettres Research University, 75005 Paris, France.
[7]
Color Health, Burlingame, CA, USA.
[8]
UC Santa Cruz Genomics Institute, Genomics, University of California, 1156 High Street, Santa Cruz, CA 95064, USA.
[9]
Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
[10]
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
[11]
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
[12]
University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics, FHU G4 Génomique, F-76000 Rouen, France.
[13]
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia.
[14]
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia.
[15]
University Rouen Normandie, Inserm U1245, F-76000 Rouen, France.
[16]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
[17]
Department of Cancer Epidemiology, H Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
[18]
Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.
[19]
Predictive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori, Via Venezian 1, 20133 Milano, Italy.
[20]
Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
[21]
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia; Department of Clinical Pathology, The Melbourne Medical School, The University of Melbourne, Melbourne, VIC 3010, Australia.
[22]
Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84132, USA.
[23]
Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
[24]
Department of Cancer Biology and Genetics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
[25]
Translational Genetics Team, Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
[26]
Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
[27]
Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
[28]
Natera, Inc, San Carlos, CA, USA.
[29]
Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[30]
Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrberghofer.edu.au.
[31]
主题词
人类(Humans);BRCA2蛋白质(BRCA2 Protein);BRCA1蛋白质(BRCA1 Protein);女(雌)性(Female);遗传变异(Genetic Variation);乳腺肿瘤(Breast Neoplasms);基因组学(Genomics);数据库, 遗传学(Databases, Genetic);卵巢肿瘤(Ovarian Neoplasms);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing)
DOI
10.1016/j.ajhg.2024.07.013
PMID
39142283
发布时间
2024-12-12
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American journal of human genetics
American journal of human genetics
2044-2058页
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