Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg)

International Journal of Oncology

Volumn 34, Issue 4, 2009, Pages 1005-1015

  Willems, P ^a   Magri, V ^b   Cretnik, M ^c   Fasano, M ^d   Jakubowska, A ^e   Levanat, Sonja ^c   Lubinski, J ^e   Marras, E ^d   Musani, V ^c   Thierens, H ^a   Vandersickel, V ^a   Perletti, Gianpaolo ^d   Vral, A ^a  

^a GHENT UNIVERSITY   (Belgium)

^b Istituti Clinic di Perferzionamento   (Italy)

^c RUDER BO KOVI INSTITUTE   (Croatia)

^d UNIVERSITY OF INSUBRIA   (Italy)

^e POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

BARD1; BRCA2; BRCAI; Breat cancer; Missense mutation; RING finger; Splicing

Indexed keywords

ARGININE; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CYSTEINE; CYTOSINE; THYMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; CASE REPORT; CODON; DOUBLE STRANDED DNA BREAK; FEMALE; GENETIC RISK; GENOTYPE; HUMAN; ITALY; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OVARY CANCER; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRCA1 PROTEIN; BRCA2 PROTEIN; CODON; EXONS; FEMALE; GENES, BRCA1; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OVARIAN NEOPLASMS; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 67649451977     PISSN: 10196439     EISSN: 17912423     Source Type: Journal    
DOI: 10.3892/ijo_00000226     Document Type: Article

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