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Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families

We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these...

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Autores principales: Peelen, T, Vliet, M van, Bosch, A, Bignell, G, Vasen, H F A, Klijn, J G M, Meijers-Heijboer, H, Stratton, M, Ommen, G-J B van, Cornelisse, C J, Devilee, P
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2000
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363204/
https://www.ncbi.nlm.nih.gov/pubmed/10638982
http://dx.doi.org/10.1054/bjoc.1999.0892
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author Peelen, T
Vliet, M van
Bosch, A
Bignell, G
Vasen, H F A
Klijn, J G M
Meijers-Heijboer, H
Stratton, M
Ommen, G-J B van
Cornelisse, C J
Devilee, P
author_facet Peelen, T
Vliet, M van
Bosch, A
Bignell, G
Vasen, H F A
Klijn, J G M
Meijers-Heijboer, H
Stratton, M
Ommen, G-J B van
Cornelisse, C J
Devilee, P
author_sort Peelen, T
collection PubMed
description We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these families. Four of the remaining 75 families had given positive linkage evidence for being due to BRCA2. In these families the entire coding region was analysed by single-strand conformational polymorphism, leading to the detection of a non-sense and a splice-site mutation in two of them. While these studies were in progress, Southern analysis of BRCA1 revealed that in our study-population of 81 families, 15 families were segregating either the exon 13 or exon 22 deletion in BRCA1 (Petrij-Bosch et al (1997) Nat Genet17: 341–345). This prompted us to examine BRCA2 in the remaining 58 families by Southern analysis, using two different restriction enzymes. No aberrations were found in the restriction patterns. Thus, contrary to BRCA1, large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families. © 2000 Cancer Research Campaign
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spelling pubmed-23632042009-09-10 Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families Peelen, T Vliet, M van Bosch, A Bignell, G Vasen, H F A Klijn, J G M Meijers-Heijboer, H Stratton, M Ommen, G-J B van Cornelisse, C J Devilee, P Br J Cancer Regular Article We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these families. Four of the remaining 75 families had given positive linkage evidence for being due to BRCA2. In these families the entire coding region was analysed by single-strand conformational polymorphism, leading to the detection of a non-sense and a splice-site mutation in two of them. While these studies were in progress, Southern analysis of BRCA1 revealed that in our study-population of 81 families, 15 families were segregating either the exon 13 or exon 22 deletion in BRCA1 (Petrij-Bosch et al (1997) Nat Genet17: 341–345). This prompted us to examine BRCA2 in the remaining 58 families by Southern analysis, using two different restriction enzymes. No aberrations were found in the restriction patterns. Thus, contrary to BRCA1, large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families. © 2000 Cancer Research Campaign Nature Publishing Group 2000-01 1999-12-08 /pmc/articles/PMC2363204/ /pubmed/10638982 http://dx.doi.org/10.1054/bjoc.1999.0892 Text en Copyright © 2000 Cancer Research Campaign https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Regular Article
Peelen, T
Vliet, M van
Bosch, A
Bignell, G
Vasen, H F A
Klijn, J G M
Meijers-Heijboer, H
Stratton, M
Ommen, G-J B van
Cornelisse, C J
Devilee, P
Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title_full Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title_fullStr Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title_full_unstemmed Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title_short Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
title_sort screening for brca2 mutations in 81 dutch breast–ovarian cancer families
topic Regular Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363204/
https://www.ncbi.nlm.nih.gov/pubmed/10638982
http://dx.doi.org/10.1054/bjoc.1999.0892
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