A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

Cancer Epidemiology Biomarkers and Prevention

Volumn 20, Issue 6, 2011, Pages 1078-1088

  Iversen Jr , Edwin S ^a   Couch, Fergus J ^b   Goldgar, David E ^c   Tavtigian, Sean V ^c   Monteiro, Alvaro N A ^d  

^a Duke University   (United States)

^b MAYO CLINIC   (United States)

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

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

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; CLINICAL DECISION MAKING; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; PATHOGENICITY; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; VARIANTS OF UNCERTAIN SIGNIFICANCE;

BAYES THEOREM; BRCA1 PROTEIN; BREAST NEOPLASMS; COMPUTATIONAL BIOLOGY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIKELIHOOD FUNCTIONS; MUTATION;

EID: 79958076372     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-10-1214     Document Type: Article

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