Identification of a novel splicesite mutation of the BRCAL gene in two breast cancer families: Screening reveals low frequency in icelandic breast cancer patients

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Bergthorsson, Jon Thor ^a   Jonasdottir, Adàlbjorg ^a   Johannesdottir, Gudrun ^a   Arason, Adalgeir ^a   Egilsson, Valgardur ^a   Gayther, Simon ^b   Borg, Ake ^c   Hakanson, Sara ^c   Ingvarsson, Sigurdur ^a   Barkardottir, Rosa Bjork ^a  

^a LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c Advanced Center of Translational Regenerative Medicine   (Sweden)

Author keywords

BRCAl; Familial breast cancer; Splice site mutation; SSCP screening

Indexed keywords

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; BREAST CANCER; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; ICELAND; POPULATION RESEARCH; PRIORITY JOURNAL; STOP CODON; BREAST TUMOR; CHEMISTRY; EXON; FAMILY HEALTH; FEMALE; GENETICS; INTRON; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

BRCA1 PROTEIN; DNA;

ALLELES; ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA1 PROTEIN; BREAST NEOPLASMS; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HUMANS; ICELAND; INTRONS; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 17144438856     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110163     Document Type: Article

References (9)

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