||5R01CA067151-04 Interpret this number
||Dana-Farber Cancer Institute
||Inherited Msh2/Mlh1 Mutations in Colon Cancer Subgroups
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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