A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

Breast Cancer Research and Treatment

Volumn 128, Issue 1, 2011, Pages 179-185

  Thomassen, Mads ^a   Pedersen, Inge Søkilde ^c   Vogel, Ida ^b   Hansen, Thomas V O ^d   Brasch Andersen, Charlotte ^a   Brasen, Claus L ^a   Crüger, Dorthe ^f   Sunde, Lone ^e   Nielsen, Finn C ^d   Jensen, Uffe B ^b   Bisgaard, Marie Luise ^h   Borg, Åke ^g   Gerdes, Anne Marie ^d   Kruse, Torben A ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c AALBORG UNIVERSITY HOSPITAL   (Denmark)

^d Rigshospitalet   (Denmark)

^e AARHUS UNIVERSITY   (Denmark)

^f LILLEBAELT HOSPITAL   (Denmark)

^g LUND UNIVERSITY   (Sweden)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

7845+1G>A; BRCA2; Founder mutation; Hereditary breast cancer; Mutation age; RT PCR; SNP array

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; MESSENGER RNA; RNA;

AMINO ACID SEQUENCE; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER FAMILY; CONSENSUS SEQUENCE; CONTROLLED STUDY; DENMARK; EXON; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FOUNDER EFFECT; GENE LOSS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

BREAST NEOPLASMS; DENMARK; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LIKELIHOOD FUNCTIONS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE VALUES; RNA SPLICE SITES;

EID: 79959275758     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1272-6     Document Type: Article

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