New Models Better Predictors of Lynch Syndrome Mutations
Methodology accurately predicts at-risk individuals with more sensitivity and specificity
TUESDAY, Sept. 26 (HealthDay News) -- The PREMM model (Prediction of Mutations in MLH1 and MSH2) can accurately predict genetic-testing outcomes for those at risk for Lynch syndrome, while the MMRpro can be an accurate model for screening and genetic counseling for those at high risk for the syndrome who have no tumor samples, according to two papers in the Sept. 27 issue of the Journal of the American Medical Association.
Judith Balmana, M.D., of the Dana-Farber Cancer Institute in Boston, and colleagues found the PREMM1,2 model to be strongly predictive of mutations in 1,914 unrelated probands. The model analyzed two or more separate diagnoses of colorectal or endometrial cancer and family history -- first-degree relatives with colorectal or endometrial cancer. Some authors in this study received honoraria from, or were employed by, Myriad Genetics Laboratories, Inc.
In the second study, Sining Chen, Ph.D., of the Johns Hopkins Bloomberg School of Public Health in Baltimore, and colleagues found the MMRpro model to be more sensitive and specific than current clinical guidelines in identifying at-risk individuals for Lynch syndrome who could benefit from MMR germline testing. The model estimated genetic parameters and specified a mutation-prediction and cancer-risk prediction.
"These prediction rules should form very useful tools for clinicians and their patients, as well as for epidemiologists who wish to assess both the magnitude of the hereditary non-polyposis colorectal cancer problem and the potential usefulness of preventive efforts," write James Ford, M.D., and Alice Whittemore, Ph.D., in an accompanying editorial.