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Genetics of Colorectal Cancer (PDQ®)
Health Professional VersionLast Modified: 10/05/2009



Purpose of This PDQ Summary






Introduction






Colon Cancer Genes






Genetic Polymorphisms and Colorectal Cancer Risk






Major Genetic Syndromes






Psychosocial Issues in Hereditary Colon Cancer Syndromes: Lynch Syndrome and Familial Adenomatous Polyposis






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Changes to This Summary (10/05/2009)






More Information



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Changes to This Summary (10/05/2009)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Colon Cancer Genes

Updated text to revise the names of two major germline mutations, Y179C (previously Y165C) and G396D (previously G382D), and to state that carriage of the Y179C allele may be associated with clinically more significant disease than the G396D allele (cited Nielsen et al. as reference 17).

Added text to state that many have speculated that risk to monoallelic carriers may be increased, and that one study has demonstrated a twofold increased risk in monoallelic carriers relative to noncarriers, but that this is not considered clinically highly significant (cited Jones et al. as reference 18).

Genetic Polymorphisms and Colorectal Cancer Risk

Added text to state that two SNPs have been reported to increase CRC risk in Lynch syndrome mutation carriers, and that having the C-allele of either SNP increased the risk of CRC in a dose-dependent fashion (cited Wijnen et al. as reference 13).

Major Genetic Syndromes

Added text to state that adenocarcinomas of the lower uterine segment may carry a greater risk of manifesting HNPCC (cited Westin et al. as reference 251).

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