换一批The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
第一作者：
Setareh,Moghadasi
第一单位：
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
作者：
Setareh,Moghadasi [1]
;
Huong D,Meeks [2]
;
Maaike Pg,Vreeswijk [3]
;
Linda Am,Janssen [1]
;
Åke,Borg [4]
;
Hans,Ehrencrona [5]
;
Ylva,Paulsson-Karlsson [6]
;
Barbara,Wappenschmidt [7]
;
Christoph,Engel [8]
;
Andrea,Gehrig [9]
;
Norbert,Arnold [10]
;
Thomas Van Overeem,Hansen [11]
;
Mads,Thomassen [12]
;
Uffe Birk,Jensen [13]
;
Torben A,Kruse [12]
;
Bent,Ejlertsen [14]
;
Anne-Marie,Gerdes [15]
;
Inge Søkilde,Pedersen [16]
;
Sandrine M,Caputo [17]
;
Fergus,Couch [18]
;
Emily J,Hallberg [19]
;
Ans Mw,van den Ouweland [20]
;
Margriet J,Collée [20]
;
Erik,Teugels [21]
;
Muriel A,Adank [22]
;
Rob B,van der Luijt [23]
;
Arjen R,Mensenkamp [24]
;
Jan C,Oosterwijk [25]
;
Marinus J,Blok [26]
;
Nicolas,Janin [27]
;
Kathleen Bm,Claes [28]
;
Kathy,Tucker [29]
;
Valeria,Viassolo [30]
;
Amanda Ewart,Toland [31]
;
Diana E,Eccles [32]
;
Peter,Devilee [3]
;
Christie J,Van Asperen [1]
;
Amanda B,Spurdle [33]
;
David E,Goldgar [34]
;
Encarna Gómez,García [26]
作者单位：
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
[1]
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
[2]
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
[3]
Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
[4]
Department of Clinical Genetics, Lund University, Lund, Sweden.;Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services, Lund University, Lund, Sweden.
[5]
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
[6]
Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.;Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.;Centre for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany.
[7]
Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.;Department of Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
[8]
Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.;Department of Medical Genetics, University Würzburg, Würzburg, Germany.;Institute of Human Genetics, University Würzburg, Würzburg, Germany.
[9]
Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
[10]
Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.;Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.
[11]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[12]
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
[13]
Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.;Department of Oncology, University of Copenhagen, Copenhagen, Denmark.
[14]
Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.;Department of Clinical Genetics, University of Copenhagen, Copenhagen, Denmark.
[15]
Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.;Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
[16]
Institut Curie, Service de génétique, Paris, France.
[17]
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
[18]
Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
[19]
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
[20]
Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium.
[21]
Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands.
[22]
Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.;Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
[23]
Department of Human Genetics, Radboudumc Nijmegen, The Netherlands.
[24]
Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands.
[25]
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
[26]
Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium.
[27]
Centre for Medical Genetics, Ghent University Hospital, Belgium.
[28]
Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia.
[29]
Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.;Division of Oncology, Geneva University Hospitals, Geneva, Switzerland.
[30]
Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
[31]
Faculty of Medicine, University of Southampton, Southampton, UK.
[32]
Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.
[33]
Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA.
[34]
医学主题词
BRCA1蛋白质(BRCA1 Protein);乳腺肿瘤(Breast Neoplasms);染色体分离(Chromosome Segregation);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);突变(Mutation);卵巢肿瘤(Ovarian Neoplasms);危险因素(Risk Factors)
DOI
10.1136/jmedgenet-2017-104560
PMID
28490613
发布时间
2020-04-25
- 浏览13
Journal of medical genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
