Initial results by Le and colleagues, which were published in the June 25, 2015 issue of the
New England Journal of Medicine, report significant responses of cancers with microsatellite …

This guideline presents recommendations for the management of patients with hereditary
gastrointestinal cancer syndromes. The initial assessment is the collection of a family history …

More than one million patients will manifest colorectal cancer (CRC) this year of which,
conservatively, approximately 3%(∼ 30,700 cases) will have Lynch syndrome (LS), the most …

Medical genetics was revolutionized during the 1980s by the application of genetic mapping
to locate the genes responsible for simple Mendelian diseases. Most diseases and traits …

Mismatch repair stabilizes the cellular genome by correcting DNA replication errors and by
blocking recombination events between divergent DNA sequences. The reaction …

Background & Aims Multigene panels are commercially available tools for hereditary cancer
risk assessment that allow for next-generation sequencing of numerous genes in parallel …

Background Turcot's syndrome is characterized clinically by the concurrence of a primary
brain tumor and multiple colorectal adenomas. We attempted to define the syndrome at the …

High-penetrance mutations in several genes have been identified that contribute to
hereditary colorectal cancer. The role of these mutations in cancer pathogenesis is well …

The genetic and biochemical properties of three human MutS homologues, hMSH2, hMSH3,
and hMSH6, have been examined. The full-length hMSH6 cDNA and genomic locus were …

To investigate the role of the presumed DNA mismatch repair (MMR) gene Msh2 in genome
stability and tumorigenesis, we have generated cells and mice that are deficient for the …