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National Institutes of Health: National Cancer Institute: Division of Cancer Control and Population Sciences
Grant Details

Grant Number: 5R01CA067151-04 Interpret this number
Primary Investigator: Li, Frederick
Organization: Dana-Farber Cancer Institute
Project Title: Inherited Msh2/Mlh1 Mutations in Colon Cancer Subgroups
Fiscal Year: 1998
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Abstract

In recent months, 2 genes were identified for the common form of hereditary colorectal cancer (hereditary non-polyposis colon cancer; HNPCC). Based on small numbers of highly selected families, as much as 90% of HNPCC might be attributable to these genes and carriers have an estimated 70-90% lifetime risk of colorectal cancer. However, HNPCC accounts for 4% or less of all colorectal cancers. The frequency of inherited MSH2 and MLH1 mutations is unknown among the other 96% of all colorectal cancers. Therefore, the aims of this population-based epidemiological study are to determine the frequencies of germline MSH2 and MLH1 mutations (carriers) in a population-based, stratified sample of 400 colorectal cancer patients randomly selected from the Cancer Surveillance Program of Orange, Imperial and San Diego Counties, California. Study subjects will be sampled from strata defined by family history of colorectal cancer (hereditary non-polyposis colon cancer, familial cases but not HNPCC, and sporadic cases), and age at cancer diagnosis (0-64 years, and 65 years and over). The results of mutational status (its presence or absence, and mutation site and type within the MSH2/MSH1 genes) will be correlated with data collated on family history, age at diagnosis, and RER status, as well as clinical, demographic and risk factor data from the questionnaire interview. The data from this population-based study will facilitate strategic planning for translation cancer control research that targets family members of subsets of colorectal cancer cases.

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Publications

Mismatch Repair: Mechanisms And Relationship To Cancer Susceptibility
Authors: Kolodner R.D. .
Source: Trends In Biochemical Sciences, 1995 Oct; 20(10), p. 397-401.
PMID: 8533151
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Biochemistry And Genetics Of Eukaryotic Mismatch Repair
Authors: Kolodner R. .
Source: Genes & Development, 1996-06-15 00:00:00.0; 10(12), p. 1433-42.
PMID: 8666228
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Methylation Of The Hmlh1 Promoter Correlates With Lack Of Expression Of Hmlh1 In Sporadic Colon Tumors And Mismatch Repair-defective Human Tumor Cell Lines
Authors: Kane M.F. , Loda M. , Gaida G.M. , Lipman J. , Mishra R. , Goldman H. , Jessup J.M. , Kolodner R. .
Source: Cancer Research, 1997-03-01 00:00:00.0; 57(5), p. 808-11.
PMID: 9041175
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Germ-line Msh6 Mutations In Colorectal Cancer Families
Authors: Kolodner R.D. , Tytell J.D. , Schmeits J.L. , Kane M.F. , Gupta R.D. , Weger J. , Wahlberg S. , Fox E.A. , Peel D. , Ziogas A. , et al. .
Source: Cancer Research, 1999-10-15 00:00:00.0; 59(20), p. 5068-74.
PMID: 10537275
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Differential Effects Of Wine Consumption On Colorectal Cancer Outcomes Based On Family History Of The Disease
Authors: Zell J.A. , McEligot A.J. , Ziogas A. , Holcombe R.F. , Anton-Culver H. .
Source: Nutrition And Cancer, 2007; 59(1), p. 36-45.
PMID: 17927500
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