BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels

Breast Cancer Research and Treatment

Volumn 130, Issue 3, 2011, Pages 1051-1056

  Zhang, Liying ^a   Chen, Lishi ^a   Bacares, Ruben ^a   Ruggeri, Jeanine M ^a   Somar, Joshua ^a   Kemel, Yelena ^a   Stadler, Zsofia K ^a   Offit, Kenneth ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Alternative splicing; BRCA1; Missense mutation; R71K

Indexed keywords

ADENINE; AMINO ACID; ARGININE; BRCA1 PROTEIN; COMPLEMENTARY DNA; GUANINE; LYSINE; NUCLEOTIDE;

ADULT; ARTICLE; BREAST CANCER; CANCER CLASSIFICATION; CANCER SUSCEPTIBILITY; CASE REPORT; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE FUNCTION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA1 PROTEIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEOPLASMS; PEDIGREE; TRANSCRIPTION, GENETIC;

EID: 84860400560     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1732-7     Document Type: Article

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