Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites

We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the cri...

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Autores principales: Rapakko, K, Allinen, M, Syrjäkoski, K, Vahteristo, P, Huusko, P, Vähäkangas, K, Eerola, H, Kainu, T, Kallioniemi, O-P, Nevanlinna, H, Winqvist, R
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2001
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363618/
https://www.ncbi.nlm.nih.gov/pubmed/11139324
http://dx.doi.org/10.1054/bjoc.2000.1530
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author Rapakko, K
Allinen, M
Syrjäkoski, K
Vahteristo, P
Huusko, P
Vähäkangas, K
Eerola, H
Kainu, T
Kallioniemi, O-P
Nevanlinna, H
Winqvist, R
author_facet Rapakko, K
Allinen, M
Syrjäkoski, K
Vahteristo, P
Huusko, P
Vähäkangas, K
Eerola, H
Kainu, T
Kallioniemi, O-P
Nevanlinna, H
Winqvist, R
author_sort Rapakko, K
collection PubMed
description We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases. © 2001 Cancer Research Campaign http://www.bjcancer.com
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spelling pubmed-23636182009-09-10 Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites Rapakko, K Allinen, M Syrjäkoski, K Vahteristo, P Huusko, P Vähäkangas, K Eerola, H Kainu, T Kallioniemi, O-P Nevanlinna, H Winqvist, R Br J Cancer Short Communication We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases. © 2001 Cancer Research Campaign http://www.bjcancer.com Nature Publishing Group 2001-01 2001-01-01 /pmc/articles/PMC2363618/ /pubmed/11139324 http://dx.doi.org/10.1054/bjoc.2000.1530 Text en Copyright © 2001 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 Short Communication
Rapakko, K
Allinen, M
Syrjäkoski, K
Vahteristo, P
Huusko, P
Vähäkangas, K
Eerola, H
Kainu, T
Kallioniemi, O-P
Nevanlinna, H
Winqvist, R
Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title_full Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title_fullStr Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title_full_unstemmed Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title_short Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
title_sort germline tp53 alterations in finnish breast cancer families are rare and occur at conserved mutation-prone sites
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363618/
https://www.ncbi.nlm.nih.gov/pubmed/11139324
http://dx.doi.org/10.1054/bjoc.2000.1530
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