ENIGMA-evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

Human Mutation

Volumn 33, Issue 1, 2012, Pages 2-7

  Spurdle, Amanda B ^a   Healey, Sue ^a   Devereau, Andrew ^b   Hogervorst, Frans B L ^c   Monteiro, Alvaro N A ^d   Nathanson, Katherine L ^e   Radice, Paolo ^f   Stoppa Lyonnet, Dominique ^g   Tavtigian, Sean ^h   Wappenschmidt, Barbara ⁱ   Couch, Fergus J ^j   Goldgar, David E ^k  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b ST MARY S HOSPITAL   (United Kingdom)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

^d H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^g INSTITUT CURIE   (France)

^h UNIVERSITY OF UTAH   (United States)

ⁱ UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^j Mayo Clinic   (United States)

^k UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

BRCA1 BRCA2; Consortium; International collaboration; Unclassified variant

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; MESSENGER RNA;

ARTICLE; DATA BASE; EVIDENCE BASED NETWORK FOR THE INTERPRETATION OF GERMLINE MUTANT ALLELE; GENETIC ANALYSIS; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; PATHOLOGY; PRIORITY JOURNAL; RISK ASSESSMENT; RNA SPLICING;

ALGORITHMS; ALLELES; BREAST NEOPLASMS; DATA INTERPRETATION, STATISTICAL; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GERM CELLS; GERM-LINE MUTATION; HUMANS; ORGANIZATION AND ADMINISTRATION; OVARIAN NEOPLASMS; PRACTICE GUIDELINES AS TOPIC; RISK FACTORS; RNA SPLICING;

EID: 84857691697     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21628     Document Type: Article

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