A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Human Mutation

Volumn 34, Issue 1, 2013, Pages 200-209

  Thompson, Bryony A ^a,b   Goldgar, David E ^c   Paterson, Carol ^a   Clendenning, Mark ^a   Walters, Rhiannon ^a   Arnold, Sven ^a   Parsons, Michael T ^a   Michael, Walsh D ^a   Gallinger, Steven ^d   Haile, Robert W ^e   Hopper, John L ^f   Jenkins, Mark A ^f   Lemarchand, Loic ^g   Lindor, Noralane M ^h   Newcomb, Polly A ⁱ   Thibodeau, Stephen N ^j   Young, Joanne P ^a   Buchanan, Daniel D ^a   Tavtigian, Sean V ^k   Spurdle, Amanda B ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

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

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^h MAYO CLINIC   (United States)

ⁱ Fred Hutchinson Cancer Research Center   (United States)

^j MAYO CLINIC   (United States)

^k UNIVERSITY OF UTAH   (United States)

more..

Author keywords

BRAF; Mismatch repair; MSI; Multifactorial likelihood model; Unclassified variants

Indexed keywords

B RAF KINASE; MISMATCH REPAIR PROTEIN;

ARTICLE; BIOINFORMATICS; CANCER CLASSIFICATION; CANCER REGISTRY; CONTROLLED STUDY; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; INTRON; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; RNA SPLICING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALTERNATIVE SPLICING; COLONIC NEOPLASMS; COMPUTATIONAL BIOLOGY; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; HUMANS; LIKELIHOOD FUNCTIONS; MICROSATELLITE INSTABILITY; MICROSATELLITE REPEATS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; REGISTRIES;

EID: 84871613264     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22213     Document Type: Article

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