Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

Human Mutation

Volumn 29, Issue 11, 2008, Pages 1273-1281

  Greenblatt, Marc S ^a   Brody, Lawrence C ^b   Foulkes, William D ^c   Genuardi, Maurizio ^d,j   Hofstra, Robert M W ^e   Olivier, Magali ^f   Plon, Sharon E ^g   Sijmons, Rolf H ^e   Sinilnikova, Olga ^h,k   Spurdle, Amanda B ⁱ  

^a UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^j Fiorgen Foundation for Pharmacogenomics   (Italy)

^k UNIVERSITÉ LYON 1   (France)

more..

Author keywords

BIC; Cancer; Locus specific databases; LSDBs; Mismatch repair; Pathogenic; Unclassified variant; Variant of unknown significance

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; PROTEIN MLH1; PROTEIN MSH2; PROTEIN P53;

CANCER SUSCEPTIBILITY; CLASSIFICATION; FAMILY HISTORY; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC DATABASE; GENETIC SUSCEPTIBILITY; INFORMATION PROCESSING; LOCUS SPECIFIC DATABASE; MUTATIONAL ANALYSIS; PATHOGENICITY; PRIORITY JOURNAL; PUBLICATION; REVIEW;

COMPUTATIONAL BIOLOGY; DATA COLLECTION; DATABASES, GENETIC; GENES, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY;

EID: 55549097492     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20889     Document Type: Review

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