Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

ABSTRACT: It is important to identify a germline mutation in a patient with an inherited cancer syndrome to allow mutation carriers to be included in cancer surveillance programs, which have been proven to save lives. Many of the mutations identified result in premature termination of translation, and thus in loss-of-function of the encoded mutated protein. However, the significance of a large proportion of the sequence changes reported is unknown. Some of these variants will be associated with a high risk of cancer and have direct clinical consequence. Many criteria can be used to classify variants with unknown significance; most criteria are based on the characteristics of the amino acid change, on segregation data and appearance of the variant, on the presence of the variant in controls, or on fu

SUBMITTER: Hofstra RM 

PROVIDER: S-EPMC2966299 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature