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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases
The I1307K APC germline mutation is associated with an increased risk to colo-rectal cancer (CRC). Whether and to what extent the phenotype of CRC in mutation carriers differs from sporadic cases, remains unknown. To gain insight into this issue, we analysed 307 unselected Israeli patients with CRC,...
Autores principales: | , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Nature Publishing Group
2001
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375261/ https://www.ncbi.nlm.nih.gov/pubmed/11720476 http://dx.doi.org/10.1054/bjoc.2001.2093 |
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author | Figer, A Shtoyerman-Chen, R Tamir, A Geva, R Irmin, L Flex, D Theodor, L Sulkes, A Sadetzki, S Bar-Meir, S Friedman, E |
author_facet | Figer, A Shtoyerman-Chen, R Tamir, A Geva, R Irmin, L Flex, D Theodor, L Sulkes, A Sadetzki, S Bar-Meir, S Friedman, E |
author_sort | Figer, A |
collection | PubMed |
description | The I1307K APC germline mutation is associated with an increased risk to colo-rectal cancer (CRC). Whether and to what extent the phenotype of CRC in mutation carriers differs from sporadic cases, remains unknown. To gain insight into this issue, we analysed 307 unselected Israeli patients with CRC, who were treated in a single medical centre, for harbouring the I1307K mutation. Twenty-eight mutation carriers (9.1%) were detected. Two of 28 mutation carriers (7.1%) and 93/277 (33.6%) of non-carriers, were of non-Ashkenazi origin (P< 0.01). In 74/278 (26.6%) of the sporadic cases, and only 1/28 (3.6%) of mutation carriers (3.6%) the tumour was located in the right colon (P< 0.01). Mutation carriers had a more advanced disease stage (14/28 – 50% Dukes C), as compared with 60 (19.5%) of non-carriers (P= 0.02). The mean age at diagnosis was similar: 65 (+/– 9.7) years and 66.3 (+/– 11.6) years, for mutation carriers and non-carriers, respectively. No statistical differences were noted between the two groups in sex distribution, tumour grade, and family history of cancer. We conclude that early age at diagnosis and family history of cancer cannot be used to predict who is likely to harbour the I1307K APC germline mutation carriers. However, the tumours in patients with this mutation appear different than those without, are less likely to be proximal and more likely to be advanced than tumours in non-carriers. http://www.bjcancer.com © 2001 Cancer Research Campaign |
format | Text |
id | pubmed-2375261 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2001 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-23752612009-09-10 Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases Figer, A Shtoyerman-Chen, R Tamir, A Geva, R Irmin, L Flex, D Theodor, L Sulkes, A Sadetzki, S Bar-Meir, S Friedman, E Br J Cancer Regular Article The I1307K APC germline mutation is associated with an increased risk to colo-rectal cancer (CRC). Whether and to what extent the phenotype of CRC in mutation carriers differs from sporadic cases, remains unknown. To gain insight into this issue, we analysed 307 unselected Israeli patients with CRC, who were treated in a single medical centre, for harbouring the I1307K mutation. Twenty-eight mutation carriers (9.1%) were detected. Two of 28 mutation carriers (7.1%) and 93/277 (33.6%) of non-carriers, were of non-Ashkenazi origin (P< 0.01). In 74/278 (26.6%) of the sporadic cases, and only 1/28 (3.6%) of mutation carriers (3.6%) the tumour was located in the right colon (P< 0.01). Mutation carriers had a more advanced disease stage (14/28 – 50% Dukes C), as compared with 60 (19.5%) of non-carriers (P= 0.02). The mean age at diagnosis was similar: 65 (+/– 9.7) years and 66.3 (+/– 11.6) years, for mutation carriers and non-carriers, respectively. No statistical differences were noted between the two groups in sex distribution, tumour grade, and family history of cancer. We conclude that early age at diagnosis and family history of cancer cannot be used to predict who is likely to harbour the I1307K APC germline mutation carriers. However, the tumours in patients with this mutation appear different than those without, are less likely to be proximal and more likely to be advanced than tumours in non-carriers. http://www.bjcancer.com © 2001 Cancer Research Campaign Nature Publishing Group 2001-11 2001-09-01 /pmc/articles/PMC2375261/ /pubmed/11720476 http://dx.doi.org/10.1054/bjoc.2001.2093 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 | Regular Article Figer, A Shtoyerman-Chen, R Tamir, A Geva, R Irmin, L Flex, D Theodor, L Sulkes, A Sadetzki, S Bar-Meir, S Friedman, E Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title_full | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title_fullStr | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title_full_unstemmed | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title_short | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases |
title_sort | phenotypic characteristics of colo-rectal cancer in i1307k apc germline mutation carriers compared with sporadic cases |
topic | Regular Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375261/ https://www.ncbi.nlm.nih.gov/pubmed/11720476 http://dx.doi.org/10.1054/bjoc.2001.2093 |
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