Prediction of germline mutations and cancer risk in the Lynch syndrome.

ABSTRACT:

Context

Identifying families at high risk for the Lynch syndrome (ie, hereditary nonpolyposis colorectal cancer) is critical for both genetic counseling and cancer prevention. Current clinical guidelines are effective but limited by applicability and cost.

Objective

To develop and validate a genetic counseling and risk prediction tool that estimates the probability of carrying a deleterious mutation in mismatch repair genes MLH1, MSH2, or MSH6 and the probability of developing colorectal or endometrial cancer.

Design, setting, and patients

External validation of the MMRpro model was conducted on 279 individuals from 226 clinic-based families in the United States, Canada, and Australia (referred between 1993-2005) by comparing model predictions with results of highly s

SUBMITTER: Chen S 

PROVIDER: S-EPMC2538673 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature