Functional assays for analysis of variants of uncertain significance in BRCA2

Human Mutation

Volumn 35, Issue 2, 2014, Pages 151-164

  Guidugli, Lucia ^a   Carreira, Aura ^b,c   Caputo, Sandrine M ^b   Ehlen, Asa ^b,c   Galli, Alvaro ^d   Monteiro, Alvaro N A ^e   Neuhausen, Susan L ^f   Hansen, Thomas V O ^g   Couch, Fergus J ^a   Vreeswijk, Maaike P G ^h  

^a MAYO CLINIC   (United States)

^b INSTITUT CURIE   (France)

^c CNRS UMR3348   (France)

^d CNR   (Italy)

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

^f CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

^h LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BRCA2; Breast cancer; Functional analysis; Genetic testing; Ovarian cancer; Variants of uncertain significance; VUS

Indexed keywords

BRCA2 PROTEIN;

CANCER CELL CULTURE; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CENTROSOME AMPLIFICATION ASSAY; CHROMOSOME DAMAGE; COLORECTAL CANCER; EMBRYONIC STEM CELL BASED FUNCTIONAL ASSAY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC EPIDEMIOLOGY; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HOMOLOGY DIRECTED REPAIR ASSAY; HUMAN; IONIZING RADIATION; MISSENSE MUTATION; MMC SURVIVAL ASSAY; NONHUMAN; NUCLEAR LOCALIZATION ASSAY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; RNA SPLICING; TUMOR SUPPRESSOR GENE; VARIANT OF UNCERTAIN SIGNIFICANCE; YEAST RECOMBINATION ASSAY;

BRCA2; BREAST CANCER; FUNCTIONAL ANALYSIS; GENETIC TESTING; OVARIAN CANCER; VARIANTS OF UNCERTAIN SIGNIFICANCE; VUS;

ANIMALS; BRCA2 PROTEIN; BREAST NEOPLASMS; CELL CYCLE; DNA REPAIR; FEMALE; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TECHNIQUES; GENETIC VARIATION; HUMANS; MUTATION, MISSENSE; OVARIAN NEOPLASMS; REPRODUCIBILITY OF RESULTS;

EID: 84891911617     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22478     Document Type: Review

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