The incidence of Lynch syndrome.
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.
de la Chapelle
Albert
A
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, 420 W. 12th Avenue, 43210, Columbus, Ohio 43210, USA. delachapelle-1@medctr.osu.edu
D020137:Base Pair Mismatch; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology*; D045643:DNA Repair Enzymes / Q000235:genetics; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D015994:Incidence
D045643:DNA Repair Enzymes