Ontology highlight
ABSTRACT:
SUBMITTER: Thodi G
PROVIDER: S-EPMC2976752 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Thodi Georgia G Fostira Florentia F Sandaltzopoulos Raphael R Nasioulas George G Grivas Anastasios A Boukovinas Ioannis I Mylonaki Maria M Panopoulos Christos C Magic Mirjana Brankovic MB Fountzilas George G Yannoukakos Drakoulis D
BMC cancer 20101011
<h4>Background</h4>Germline mutations in the DNA mismatch repair genes predispose to Lynch syndrome, thus conferring a high relative risk of colorectal and endometrial cancer. The MLH1, MSH2 and MSH6 mutational spectrum reported so far involves minor alterations scattered throughout their coding regions as well as large genomic rearrangements. Therefore, a combination of complete sequencing and a specialized technique for the detection of genomic rearrangements should be conducted during a prope ...[more]