cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 663, Issue 1-2, 2009, Pages 84-89

  Zhang, Liying ^a   Bacares, Ruben ^a   Boyar, Sherry ^a   Hudis, Clifford ^a   Nafa, Khedoudja ^a   Offit, Kenneth ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

BRCA2; Breast cancer; Intron; mRNA; Splice mutation

Indexed keywords

BRCA2 PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BREAST CANCER; CANCER TISSUE; CASE REPORT; DNA DETERMINATION; DNA SPLICING; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; INTRON; MELANOMA; PANCREAS CANCER; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RNA TRANSCRIPTION; SEGREGATION ANALYSIS;

ADULT; AGED; ALLELES; ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA2 PROTEIN; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; HUMANS; INTRONS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA, MESSENGER; SEQUENCE ALIGNMENT;

EID: 63549091847     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.11.010     Document Type: Article

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