PMID- 17661183
OWN - NLM
STAT- MEDLINE
DCOM- 20081009
LR  - 20181113
IS  - 1389-9600 (Print)
IS  - 1389-9600 (Linking)
VI  - 7
IP  - 2
DP  - 2008
TI  - A novel MSH2 germline mutation in a Druze HNPCC family.
PG  - 135-9
AB  - Germline mutations in DNA mismatch repair (DNA-MMR) genes, mainly MLH1, MSH2, and 
      MSH6, underlie Hereditary non-polyposis colorectal cancer (HNPCC) and are mostly 
      family-specific, with few reported founder mutations in MSH2 (Ashkenazim) MLH1 
      (Finnish). No mutations in colon cancer susceptibility genes have ever been 
      reported in Druze individuals, a Moslem related faith encompassing approximately 
      1,000,000 individuals worldwide. A novel MSH2 mutation is described in a Druze 
      HNPCC family: a multigenerational family with 10 members in 4 generations 
      affected with colorectal cancer (mean age of diagnosis 46.5 years), two with 
      gastric cancer and one--endometrial cancer. Mutational analysis of the MSH2 gene 
      using denaturing gradient gel electrophoresis (DGGE) and direct sequencing 
      revealed the c.702delA mutation in codon 234 of exon 4 of the MSH2 gene leading 
      to a premature early stop in codon 245, p.Thr234fsX245. Analysis of 
      mutation-carrying or presumed carriers individuals' offspring, revealed 11/42 
      asymptomatic mutation carriers, age range 17-50 years. The mutation was not 
      present in two additional Druze HNPCC families and 20 Druze sporadic colon cancer 
      patients. This is the first mutation ever reported in a colon cancer 
      susceptibility gene in a Druze family and it appears not to be a founder mutation 
      in Druze individuals with HNPCC.
FAU - Zidan, Jamal
AU  - Zidan J
AD  - Oncology Unit, Rivkah Ziv Medical Center, Zefat, Israel.
FAU - Niessen, Renee C
AU  - Niessen RC
FAU - Laitman, Yael
AU  - Laitman Y
FAU - Rozeveld, Dennie
AU  - Rozeveld D
FAU - Hofstra, Robert M W
AU  - Hofstra RM
FAU - Friedman, Eitan
AU  - Friedman E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070729
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - EC 3.6.1.3 (MSH2 protein, human)
RN  - EC 3.6.1.3 (MutS Homolog 2 Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Arabs/*genetics
MH  - Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Israel
MH  - Male
MH  - Middle Aged
MH  - MutS Homolog 2 Protein/*genetics
MH  - Pedigree
EDAT- 2007/07/31 09:00
MHDA- 2008/10/10 09:00
CRDT- 2007/07/31 09:00
PHST- 2006/09/16 00:00 [received]
PHST- 2007/07/15 00:00 [accepted]
PHST- 2007/07/31 09:00 [pubmed]
PHST- 2008/10/10 09:00 [medline]
PHST- 2007/07/31 09:00 [entrez]
AID - 10.1007/s10689-007-9157-5 [doi]
PST - ppublish
SO  - Fam Cancer. 2008;7(2):135-9. doi: 10.1007/s10689-007-9157-5. Epub 2007 Jul 29.