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Identification of a founder BRCA2 mutation in Sardinia
Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Nature Publishing Group
2000
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363305/ https://www.ncbi.nlm.nih.gov/pubmed/10682665 http://dx.doi.org/10.1054/bjoc.1999.0963 |
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author | Pisano, M Cossu, A Persico, I Palmieri, G Angius, A Casu, G Palomba, G Sarobba, M G Rocca, P C Ossu Dedola, M F Olmeo, N Pasca, A Budroni, M Marras, V Pisano, A Farris, A Massarelli, G Pirastu, M Tanda, Francesco |
author_facet | Pisano, M Cossu, A Persico, I Palmieri, G Angius, A Casu, G Palomba, G Sarobba, M G Rocca, P C Ossu Dedola, M F Olmeo, N Pasca, A Budroni, M Marras, V Pisano, A Farris, A Massarelli, G Pirastu, M Tanda, Francesco |
author_sort | Pisano, M |
collection | PubMed |
description | Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped 106 members of the seven families and 20 control nuclear families with markers flanking BRCA2 locus at 13q12–q13. The detection of a common haplotype shared by four out of seven families (60%) suggests the presence of a founder BRCA2 mutation. Direct sequencing of BRCA2 coding exons of patients carrying the shared haplotype, allowed the identification of a ‘frame-shift’ mutation at codon 2867 (8765delAG), causing a premature termination-codon. This mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient with shared haplotype. We then investigated the frequency of 8765delAG in the Sardinian breast cancer population by analysing 270 paraffin-embedded normal tissue samples from breast cancer patients. Five patients (1.7%) were found to be positive for the 8765delAG mutation. Discovery of a founder mutation in Sardinia through the identity-by-descent method demonstrates that this approach can be applied successfully to find mutations either for breast cancer or for other types of tumours. © 2000 Cancer Research Campaign |
format | Text |
id | pubmed-2363305 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2000 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-23633052009-09-10 Identification of a founder BRCA2 mutation in Sardinia Pisano, M Cossu, A Persico, I Palmieri, G Angius, A Casu, G Palomba, G Sarobba, M G Rocca, P C Ossu Dedola, M F Olmeo, N Pasca, A Budroni, M Marras, V Pisano, A Farris, A Massarelli, G Pirastu, M Tanda, Francesco Br J Cancer Regular Article Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped 106 members of the seven families and 20 control nuclear families with markers flanking BRCA2 locus at 13q12–q13. The detection of a common haplotype shared by four out of seven families (60%) suggests the presence of a founder BRCA2 mutation. Direct sequencing of BRCA2 coding exons of patients carrying the shared haplotype, allowed the identification of a ‘frame-shift’ mutation at codon 2867 (8765delAG), causing a premature termination-codon. This mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient with shared haplotype. We then investigated the frequency of 8765delAG in the Sardinian breast cancer population by analysing 270 paraffin-embedded normal tissue samples from breast cancer patients. Five patients (1.7%) were found to be positive for the 8765delAG mutation. Discovery of a founder mutation in Sardinia through the identity-by-descent method demonstrates that this approach can be applied successfully to find mutations either for breast cancer or for other types of tumours. © 2000 Cancer Research Campaign Nature Publishing Group 2000-02 2000-01-18 /pmc/articles/PMC2363305/ /pubmed/10682665 http://dx.doi.org/10.1054/bjoc.1999.0963 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 Pisano, M Cossu, A Persico, I Palmieri, G Angius, A Casu, G Palomba, G Sarobba, M G Rocca, P C Ossu Dedola, M F Olmeo, N Pasca, A Budroni, M Marras, V Pisano, A Farris, A Massarelli, G Pirastu, M Tanda, Francesco Identification of a founder BRCA2 mutation in Sardinia |
title | Identification of a founder BRCA2 mutation in Sardinia |
title_full | Identification of a founder BRCA2 mutation in Sardinia |
title_fullStr | Identification of a founder BRCA2 mutation in Sardinia |
title_full_unstemmed | Identification of a founder BRCA2 mutation in Sardinia |
title_short | Identification of a founder BRCA2 mutation in Sardinia |
title_sort | identification of a founder brca2 mutation in sardinia |
topic | Regular Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363305/ https://www.ncbi.nlm.nih.gov/pubmed/10682665 http://dx.doi.org/10.1054/bjoc.1999.0963 |
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