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An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers
The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg7...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
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Nature Publishing Group
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538750/ https://www.ncbi.nlm.nih.gov/pubmed/18781154 http://dx.doi.org/10.1038/sj.bjc.6604624 |
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| author | Osorio, A Pollán, M Pita, G Schmutzler, R K Versmold, B Engel, C Meindl, A Arnold, N Preisler-Adams, S Niederacher, D Hofmann, W Gadzicki, D Jakubowska, A Hamann, U Lubinski, J Toloczko-Grabarek, A Cybulski, C Debniak, T Llort, G Yannoukakos, D Díez, O Peissel, B Peterlongo, P Radice, P Heikkinen, T Nevanlinna, H Mai, P L Loud, J T McGuffog, L Antoniou, A C Benitez, J |
| author_facet | Osorio, A Pollán, M Pita, G Schmutzler, R K Versmold, B Engel, C Meindl, A Arnold, N Preisler-Adams, S Niederacher, D Hofmann, W Gadzicki, D Jakubowska, A Hamann, U Lubinski, J Toloczko-Grabarek, A Cybulski, C Debniak, T Llort, G Yannoukakos, D Díez, O Peissel, B Peterlongo, P Radice, P Heikkinen, T Nevanlinna, H Mai, P L Loud, J T McGuffog, L Antoniou, A C Benitez, J |
| author_sort | Osorio, A |
| collection | PubMed |
| description | The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. |
| format | Text |
| id | pubmed-2538750 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2008 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-25387502009-09-16 An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers Osorio, A Pollán, M Pita, G Schmutzler, R K Versmold, B Engel, C Meindl, A Arnold, N Preisler-Adams, S Niederacher, D Hofmann, W Gadzicki, D Jakubowska, A Hamann, U Lubinski, J Toloczko-Grabarek, A Cybulski, C Debniak, T Llort, G Yannoukakos, D Díez, O Peissel, B Peterlongo, P Radice, P Heikkinen, T Nevanlinna, H Mai, P L Loud, J T McGuffog, L Antoniou, A C Benitez, J Br J Cancer Genetics and Genomics The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Nature Publishing Group 2008-09-16 2008-09-09 /pmc/articles/PMC2538750/ /pubmed/18781154 http://dx.doi.org/10.1038/sj.bjc.6604624 Text en Copyright © 2008 Cancer Research UK 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 | Genetics and Genomics Osorio, A Pollán, M Pita, G Schmutzler, R K Versmold, B Engel, C Meindl, A Arnold, N Preisler-Adams, S Niederacher, D Hofmann, W Gadzicki, D Jakubowska, A Hamann, U Lubinski, J Toloczko-Grabarek, A Cybulski, C Debniak, T Llort, G Yannoukakos, D Díez, O Peissel, B Peterlongo, P Radice, P Heikkinen, T Nevanlinna, H Mai, P L Loud, J T McGuffog, L Antoniou, A C Benitez, J An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title_full | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title_fullStr | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title_full_unstemmed | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title_short | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
| title_sort | evaluation of the polymorphisms ins16bp and arg72pro in p53 as breast cancer risk modifiers in brca1 and brca2 mutation carriers |
| topic | Genetics and Genomics |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538750/ https://www.ncbi.nlm.nih.gov/pubmed/18781154 http://dx.doi.org/10.1038/sj.bjc.6604624 |
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