Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G
Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely u...
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Online Access: | http://dx.doi.org/10.1155/1999/241046 |
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doaj-df3e1a7c7e914d7e96ef106f5070c3102020-11-24T21:39:16ZengHindawi LimitedDisease Markers0278-02401875-86301999-01-01151-3697310.1155/1999/241046Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>GKathleen Claes0Eva Machackova1Michel De Vos2Bruce Poppe3Anne De Paepe4Ludwine Messiaen5Department of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumDepartment of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumDepartment of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumDepartment of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumDepartment of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumDepartment of Medical Genetics, University Hospital Gent (0K5), De Pintelaan 185, B-9000 Gent, BelgiumSince the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early onset breast and/or ovarian cancer. In 15 families we identified a mutation (12 mutations in BRCA1 and 3 mutations in BRCA2). In 5 apparently unrelated families the same splice site mutation was identified (BRCA1 IVS5+3A>G). Haplotype analysis revealed a common haplotype immediately flanking the mutation in all families suggesting that disease alleles are identical by descent. In none of the 19 sporadic patients was a mutation found.http://dx.doi.org/10.1155/1999/241046 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kathleen Claes Eva Machackova Michel De Vos Bruce Poppe Anne De Paepe Ludwine Messiaen |
spellingShingle |
Kathleen Claes Eva Machackova Michel De Vos Bruce Poppe Anne De Paepe Ludwine Messiaen Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G Disease Markers |
author_facet |
Kathleen Claes Eva Machackova Michel De Vos Bruce Poppe Anne De Paepe Ludwine Messiaen |
author_sort |
Kathleen Claes |
title |
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G |
title_short |
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G |
title_full |
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G |
title_fullStr |
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G |
title_full_unstemmed |
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G |
title_sort |
mutation analysis of the brca1 and brca2 genes in the belgian patient population and identification of a belgian founder mutation brca1 ivs5+3a>g |
publisher |
Hindawi Limited |
series |
Disease Markers |
issn |
0278-0240 1875-8630 |
publishDate |
1999-01-01 |
description |
Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early onset breast and/or ovarian cancer. In 15 families we identified a mutation (12 mutations in BRCA1 and 3 mutations in BRCA2). In 5 apparently unrelated families the same splice site mutation was identified (BRCA1 IVS5+3A>G). Haplotype analysis revealed a common haplotype immediately flanking the mutation in all families suggesting that disease alleles are identical by descent. In none of the 19 sporadic patients was a mutation found. |
url |
http://dx.doi.org/10.1155/1999/241046 |
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