Assessment of functional effects of unclassified genetic variants

Human Mutation

Volumn 29, Issue 11, 2008, Pages 1314-1326

  Couch, Fergus J ^a   Rasmussen, Lene Juel ^b   Hofstra, Robert ^c   Monteiro, Alvaro N A ^d   Greenblatt, Marc S ^e   De Wind, Niels ^f  

^a MAYO CLINIC   (United States)

^b ROSKILDE UNIVERSITY   (Denmark)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

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

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

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BRCA1; BRCA2; CDKN2A; Functional assay; MLH1; MMR; MSH2; MSH6; PMS2; Unclassified variant

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MESSENGER RNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UBIQUITIN PROTEIN LIGASE E3;

AMINO TERMINAL SEQUENCE; BREAST CANCER; CANCER SUSCEPTIBILITY; CARBOXY TERMINAL SEQUENCE; CELL FREE SYSTEM; CENTROSOME; CLASSIFICATION; DECISION TREE; ENZYME ACTIVITY; FAMILIAL CANCER; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENETIC CODE; GENETIC PREDISPOSITION; HOMOLOGOUS RECOMBINATION; HUMAN; MELANOMA; MISMATCH REPAIR; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OVARY CANCER; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; REVIEW; RNA STABILITY; SEQUENCE ANALYSIS;

GENES, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETIC VARIATION; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; PREDICTIVE VALUE OF TESTS; SENSITIVITY AND SPECIFICITY;

EID: 55549146837     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20899     Document Type: Review

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