Ontology highlight
ABSTRACT:
SUBMITTER: Win AK
PROVIDER: S-EPMC3436601 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Win Aung Ko AK Jenkins Mark A MA Buchanan Daniel D DD Clendenning Mark M Young Joanne P JP Giles Graham G GG Goldblatt Jack J Leggett Barbara A BA Hopper John L JL Thibodeau Stephen N SN Lindor Noralane M NM
Journal of medical genetics 20110602 8
<h4>Background</h4>Carriers of a germline mutation in a DNA mismatch repair (MMR) gene--that is, persons with Lynch syndrome--have substantially high risks of colorectal (CRC), endometrial, and several other cancers. The proportion of carriers who have de novo mutations (not inherited from either parent) is not known. This study reports a case series of de novo mutations in MMR genes and estimates the frequency of de novo mutation in MMR genes using the Colon Cancer Family Registry.<h4>Methods</ ...[more]