Journal
FAMILIAL CANCER
Volume 4, Issue 3, Pages 233-237Publisher
SPRINGER
DOI: 10.1007/s10689-004-5811-3
Keywords
frequency; hereditary nonpolyposis colorectal cancer; incidence; Lynch syndrome; mismatch repair gene mutations; prevalence
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Funding
- NATIONAL CANCER INSTITUTE [U01CA067941, R01CA067941, P30CA016058] Funding Source: NIH RePORTER
- NCI NIH HHS [CA16058, CA67941] Funding Source: Medline
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Lynch syndrome (LS) here is defined as carriership of a deleterious mismatch repair (MMR) gene mutation. By screening for MMR gene mutations in unselected colorectal or endometrial cancer patients, it was found that the prevalence of LS in colorectal and endometrial cancer patients is 1-3%. On extrapolation to the entire population, the incidence of LS is between 1:2000 and 1:660. As all screening methods are less than 100% sensitive, the above figures are underestimates.
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