A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1

Human Mutation

Volumn 22, Issue 1, 2003, Pages 86-91

  Southey, M C ^a   Tesoriero, A ^a   Young, M A ^a   Holloway, A J ^a   Jenkins, M A ^b   Whitty, J ^a   Misfud, S ^a   kConFab, ^a   McLachlan, S A ^a   Venter, D J ^a   Armes, J E ^a  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b NONE

Author keywords

BRCA1; Cancer; GFP; Mutation analysis; Penetrance; Splice site

Indexed keywords

GREEN FLUORESCENT PROTEIN; MESSENGER RNA;

ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; FAMILY STUDY; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OVARY CANCER; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; RISK ASSESSMENT; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADULT; AGED; ALTERNATIVE SPLICING; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA, COMPLEMENTARY; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GREEN FLUORESCENT PROTEINS; HETEROZYGOTE DETECTION; HUMANS; LUMINESCENT PROTEINS; MALE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PENETRANCE; RNA SPLICE SITES; RNA, NEOPLASM;

EID: 0038723180     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10224     Document Type: Article

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