Test for decrease in age at diagnosis of lynch syndrome over successive generations
Thesis (M.Sc.)--Memorial University of Newfoundland, 2011. Mathematics and Statistics Bibliography: leaves 92-94. The study of age at onset anticipation and parent-of-origin effects on age at onset in Lynch Syndrome (LS) are of interest to both clinical medicine and research. Although several studie...
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ftmemorialunivdc:oai:collections.mun.ca:theses5/25917 2023-05-15T17:23:28+02:00 Test for decrease in age at diagnosis of lynch syndrome over successive generations He, Yanjing Memorial University of Newfoundland. Dept. of Mathematics and Statistics 2011 x, 94 leaves : ill. Image/jpeg; Application/pdf http://collections.mun.ca/cdm/ref/collection/theses5/id/25917 Eng eng Electronic Theses and Dissertations (9.96 MB) -- http://collections.mun.ca/PDFs/theses/He_Yanjing.pdf http://collections.mun.ca/cdm/ref/collection/theses5/id/25917 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 Colon (Anatomy)--Cancer--Genetic aspects Colon (Anatomy)--Cancer--Diagnosis Colon (Anatomy)--Cancer--Age factors Colon (Anatomy)--Cancer--Statistical methods Rectum--Cancer--Genetic aspects Rectum--Cancer--Diagnosis Rectum--Cancer--Age factors Rectum--Cancer--Statistical methods Genetic disorders--Statistical methods Text Electronic thesis or dissertation 2011 ftmemorialunivdc 2015-08-06T19:22:53Z Thesis (M.Sc.)--Memorial University of Newfoundland, 2011. Mathematics and Statistics Bibliography: leaves 92-94. The study of age at onset anticipation and parent-of-origin effects on age at onset in Lynch Syndrome (LS) are of interest to both clinical medicine and research. Although several studies have suggested the presence of age at onset anticipation and parent-of-origin effects on age at onset of LS, the question remains as to whether this evidence reflects ascertainment bias rather than the phenomenon under study. The aim of this thesis is to assess decrease in age at diagnosis of LS over successive generations as well as parent-of-origin effects on age at diagnosis of LS based on the data provided by the Colon Cancer Family Registry. We first demonstrate that the variable age at diagnosis in the sample is right truncated by the closing date of the study and, as a result, the variable age at diagnosis is a biased sample of the target populations. To assess decrease in age at diagnosis of the disease over successive generations, we use the symmetry test proposed by Tsai et al. (2005) which accounts for the bias caused by the right truncation of both the parent's and child's ages at diagnosis. To test parent-of-origin effect, we examine and improve the method used by Lindor et al. (2010). Based on our preliminary analysis, we did not find sufficient statistical evidence from this sample to claim that there exists a parent-of-origin effect on age at diagnosis of LS relating to either the gender of the parent or the gender of the offspring after accounting for the sampling bias. The results given by the symmetry test suggest that there exists a decrease in age at diagnosis of LS over successive generations. This result should be free of the sampling bias caused by the right truncation. What remains uncertain is whether true genetic anticipation contributes to the decrease in age at diagnosis over successive generations observed in this disease. Thesis Newfoundland studies University of Newfoundland Memorial University of Newfoundland: Digital Archives Initiative (DAI) Lynch ENVELOPE(-57.683,-57.683,-63.783,-63.783) |
institution |
Open Polar |
collection |
Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
op_collection_id |
ftmemorialunivdc |
language |
English |
topic |
Colon (Anatomy)--Cancer--Genetic aspects Colon (Anatomy)--Cancer--Diagnosis Colon (Anatomy)--Cancer--Age factors Colon (Anatomy)--Cancer--Statistical methods Rectum--Cancer--Genetic aspects Rectum--Cancer--Diagnosis Rectum--Cancer--Age factors Rectum--Cancer--Statistical methods Genetic disorders--Statistical methods |
spellingShingle |
Colon (Anatomy)--Cancer--Genetic aspects Colon (Anatomy)--Cancer--Diagnosis Colon (Anatomy)--Cancer--Age factors Colon (Anatomy)--Cancer--Statistical methods Rectum--Cancer--Genetic aspects Rectum--Cancer--Diagnosis Rectum--Cancer--Age factors Rectum--Cancer--Statistical methods Genetic disorders--Statistical methods He, Yanjing Test for decrease in age at diagnosis of lynch syndrome over successive generations |
topic_facet |
Colon (Anatomy)--Cancer--Genetic aspects Colon (Anatomy)--Cancer--Diagnosis Colon (Anatomy)--Cancer--Age factors Colon (Anatomy)--Cancer--Statistical methods Rectum--Cancer--Genetic aspects Rectum--Cancer--Diagnosis Rectum--Cancer--Age factors Rectum--Cancer--Statistical methods Genetic disorders--Statistical methods |
description |
Thesis (M.Sc.)--Memorial University of Newfoundland, 2011. Mathematics and Statistics Bibliography: leaves 92-94. The study of age at onset anticipation and parent-of-origin effects on age at onset in Lynch Syndrome (LS) are of interest to both clinical medicine and research. Although several studies have suggested the presence of age at onset anticipation and parent-of-origin effects on age at onset of LS, the question remains as to whether this evidence reflects ascertainment bias rather than the phenomenon under study. The aim of this thesis is to assess decrease in age at diagnosis of LS over successive generations as well as parent-of-origin effects on age at diagnosis of LS based on the data provided by the Colon Cancer Family Registry. We first demonstrate that the variable age at diagnosis in the sample is right truncated by the closing date of the study and, as a result, the variable age at diagnosis is a biased sample of the target populations. To assess decrease in age at diagnosis of the disease over successive generations, we use the symmetry test proposed by Tsai et al. (2005) which accounts for the bias caused by the right truncation of both the parent's and child's ages at diagnosis. To test parent-of-origin effect, we examine and improve the method used by Lindor et al. (2010). Based on our preliminary analysis, we did not find sufficient statistical evidence from this sample to claim that there exists a parent-of-origin effect on age at diagnosis of LS relating to either the gender of the parent or the gender of the offspring after accounting for the sampling bias. The results given by the symmetry test suggest that there exists a decrease in age at diagnosis of LS over successive generations. This result should be free of the sampling bias caused by the right truncation. What remains uncertain is whether true genetic anticipation contributes to the decrease in age at diagnosis over successive generations observed in this disease. |
author2 |
Memorial University of Newfoundland. Dept. of Mathematics and Statistics |
format |
Thesis |
author |
He, Yanjing |
author_facet |
He, Yanjing |
author_sort |
He, Yanjing |
title |
Test for decrease in age at diagnosis of lynch syndrome over successive generations |
title_short |
Test for decrease in age at diagnosis of lynch syndrome over successive generations |
title_full |
Test for decrease in age at diagnosis of lynch syndrome over successive generations |
title_fullStr |
Test for decrease in age at diagnosis of lynch syndrome over successive generations |
title_full_unstemmed |
Test for decrease in age at diagnosis of lynch syndrome over successive generations |
title_sort |
test for decrease in age at diagnosis of lynch syndrome over successive generations |
publishDate |
2011 |
url |
http://collections.mun.ca/cdm/ref/collection/theses5/id/25917 |
long_lat |
ENVELOPE(-57.683,-57.683,-63.783,-63.783) |
geographic |
Lynch |
geographic_facet |
Lynch |
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 (9.96 MB) -- http://collections.mun.ca/PDFs/theses/He_Yanjing.pdf http://collections.mun.ca/cdm/ref/collection/theses5/id/25917 |
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_ |
1766112472782077952 |