The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer
Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 88-119) Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is the most common type of inherited colorectal cancer. Eighty to ninety percent of identified mutations in HNPCC families involv...
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ftmemorialunivdc:oai:collections.mun.ca:theses4/90743 2023-05-15T17:23:33+02:00 The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer Adams, Aimée Dawn. Memorial University of Newfoundland. Faculty of Medicine 2009. xvii, 119 leaves : col. ill. Image/jpeg; Application/pdf http://collections.mun.ca/cdm/ref/collection/theses4/id/90743 Eng eng Electronic Theses and Dissertations (16.95 MB) -- http://collections.mun.ca/PDFs/theses/Adams_AimeeDawn.pdf a2953041 http://collections.mun.ca/cdm/ref/collection/theses4/id/90743 The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries Chromosome polymorphism Colon (Anatomy)--Cancer--Genetic aspects Colorectal Neoplasms--genetics Text Electronic thesis or dissertation 2009 ftmemorialunivdc 2015-08-06T19:22:11Z Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 88-119) Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is the most common type of inherited colorectal cancer. Eighty to ninety percent of identified mutations in HNPCC families involve MSH2 or MLH1 genes. However, a great degree of variability has been observed within and between families carrying the same mutation. Therefore, other factors such as modifying genes may be involved in the presentation of this disease. The cell cycle, the mismatch repair pathway, and folate metabolism have been associated with cancer. Therefore, I studied 31 single nucleotide polymorphisms (SNPs) from genes in these pathways to determine if they had a modifying effect on the disease penetrance. Two MSH2 kindreds were used in this study, one from Newfoundland and one from the Lower North Shore of Quebec. They included 135 mutation carriers. I identified 3 SNPs CCND1 1722 GC, CCNA2 GA, and CDKN1B ( p27KIP1 ) TG, which had signifierait effect on the age of disease onset. Thesis Newfoundland studies University of Newfoundland Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
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Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
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ftmemorialunivdc |
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English |
topic |
Chromosome polymorphism Colon (Anatomy)--Cancer--Genetic aspects Colorectal Neoplasms--genetics |
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Chromosome polymorphism Colon (Anatomy)--Cancer--Genetic aspects Colorectal Neoplasms--genetics Adams, Aimée Dawn. The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
topic_facet |
Chromosome polymorphism Colon (Anatomy)--Cancer--Genetic aspects Colorectal Neoplasms--genetics |
description |
Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 88-119) Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is the most common type of inherited colorectal cancer. Eighty to ninety percent of identified mutations in HNPCC families involve MSH2 or MLH1 genes. However, a great degree of variability has been observed within and between families carrying the same mutation. Therefore, other factors such as modifying genes may be involved in the presentation of this disease. The cell cycle, the mismatch repair pathway, and folate metabolism have been associated with cancer. Therefore, I studied 31 single nucleotide polymorphisms (SNPs) from genes in these pathways to determine if they had a modifying effect on the disease penetrance. Two MSH2 kindreds were used in this study, one from Newfoundland and one from the Lower North Shore of Quebec. They included 135 mutation carriers. I identified 3 SNPs CCND1 1722 GC, CCNA2 GA, and CDKN1B ( p27KIP1 ) TG, which had signifierait effect on the age of disease onset. |
author2 |
Memorial University of Newfoundland. Faculty of Medicine |
format |
Thesis |
author |
Adams, Aimée Dawn. |
author_facet |
Adams, Aimée Dawn. |
author_sort |
Adams, Aimée Dawn. |
title |
The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
title_short |
The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
title_full |
The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
title_fullStr |
The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
title_full_unstemmed |
The investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
title_sort |
investigation of single nucleotide polymorphisms in genes of the cell cycle and related pathways as candidate modifiers of the age of disease onset in hereditary nonpolyposis colorectal cancer |
publishDate |
2009 |
url |
http://collections.mun.ca/cdm/ref/collection/theses4/id/90743 |
genre |
Newfoundland studies University of Newfoundland |
genre_facet |
Newfoundland studies University of Newfoundland |
op_source |
Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries |
op_relation |
Electronic Theses and Dissertations (16.95 MB) -- http://collections.mun.ca/PDFs/theses/Adams_AimeeDawn.pdf a2953041 http://collections.mun.ca/cdm/ref/collection/theses4/id/90743 |
op_rights |
The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. |
_version_ |
1766113281490026496 |