BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised, and for the Belgian population no comprehensive studies about BRCA1/2 mutation spectra or frequencies have been published. We screened the complete coding region of both genes in 451 individuals from 349 Belgian...

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Bibliographic Details
Published in:British journal of cancer 2004-03, Vol.90 (6), p.1244-1251
Main Authors: Claes, K, Poppe, B, Coene, I, Paepe, A De, Messiaen, L
Format: Article
Language:English
Subjects:
Adult
Aged
Belgium
Biomedical and Life Sciences
Biomedicine
Breast Neoplasms - genetics
Cancer Research
Drug Resistance
Epidemiology
Female
Genes, BRCA1
Genes, BRCA2
Genetic Testing
Genetics and Genomics
Genetics, Population
Germ-Line Mutation
Humans
Middle Aged
Molecular Medicine
Oncology
Ovarian cancer
Ovarian Neoplasms - genetics
Pedigree
Risk Factors
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Summary:Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised, and for the Belgian population no comprehensive studies about BRCA1/2 mutation spectra or frequencies have been published. We screened the complete coding region of both genes in 451 individuals from 349 Belgian families referred to a family cancer clinic and identified 49 families with a BRCA1 and 26 families with a BRCA2 mutation. Six major recurrent mutations ( BRCA1 IVS5+3A>G, 2478–2479insG, E1221X and BRCA2 IVS6+1G>A, 6503-6504delTT, 9132delC) accounted for nearly 60% of all mutations identified. Besides 75 true pathogenic mutations, we identified several variants of unknown clinical significance. In combination with a family history, an early average age of female breast cancer diagnosis ( P
ISSN:0007-0920
1532-1827
DOI:10.1038/sj.bjc.6601656