Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

Human Mutation

Volumn 30, Issue 11, 2009, Pages 1543-1550

  Li, Lili ^a   Biswas, Kajal ^b   Habib, Laura Anne ^a   Kuznetsov, Sergey G ^b   Hamel, Nancy ^c   Kirchhoff, Tomas ^d   Wong, Nora ^e   Armel, Susan ^f   Chong, George ^e   Narod, Steven A ^f   Claes, Kathleen ^g   Offit, Kenneth ^d   Robson, Mark E ^d   Stauffer, Stacey ^b   Sharan, Shyam K ^b   Foulkes, William D ^a,c,e  

^a MCGILL UNIVERSITY   (Canada)

^b NATIONAL CANCER INSTITUTE   (United States)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

BRCA2; ES cells; ESE; Exon splicing enhancer; Unclassified variants; VUS

Indexed keywords

BRCA2 PROTEIN; RAD51 PROTEIN;

ANIMAL CELL; ANIMAL CELL CULTURE; ANIMAL EXPERIMENT; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DELETION MUTANT; EMBRYONIC STEM CELL; EXON; EXON 12; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC VARIABILITY; IRRADIATION; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REDUNDANCY ANALYSIS; RNA EXTRACTION;

ANIMALS; BRCA2 PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENES, BRCA2; GENETIC VARIATION; HUMANS; MICE; RNA SPLICING; RNA, MESSENGER;

EID: 70350733640     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21101     Document Type: Article

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