Ontology highlight
ABSTRACT:
SUBMITTER: Raskin L
PROVIDER: S-EPMC4541773 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Raskin L L Schwenter F F Freytsis M M Tischkowitz M M Wong N N Chong G G Narod S A SA Levine D A DA Bogomolniy F F Aronson M M Thibodeau S N SN Hunt K S KS Rennert G G Gallinger S S Gruber S B SB Foulkes W D WD
Clinical genetics 20101214 6
Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder mutations in MSH6 were analyzed in 2685 colorectal cancer (CRC) cases, 337 endometrial cancer (EnCa) cases and 3310 healthy controls of Ashkenazi Jewish (AJ) descent from population-based and hospital-based case–control studies in Israel, Canada and the United States. The carriers were haplotyped and the age of the mutations was estimated. MSH6*c.3984_398 ...[more]