Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

ABSTRACT:

Background

Lynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from intensive surveillance programs. One of the challenges with genetic testing is the interpretation of pathogenicity of detected DNA variants. The aim of this study was to investigate all putative pathogenic variants tested for at the Division of Molecular Medicine, Pathology North, in Newcastle, Australia, to establish whether previous variant classification is in accordance with that recently performed in the InSiGHT collaboration.

Methods

Prediction programs and available literature were used to classify new variants or variants without classification.

Re

SUBMITTER: Sjursen W 

PROVIDER: S-EPMC4799874 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature