title: GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer.
abstract: BACKGROUND
  A 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS).
  
  
  OBJECTIVE
  Assess the contribution of the GREM1 mutation to familial colorectal cancer (CRC) in Ashkenazim.
  
  
  METHODS
  Jewish Ashkenazi individuals (n = 472 155 males, 317 females) were genotyped for the GREM1 duplication, 194 with CRC, 131 had other cancer types (endometrial, pancreatic and ovarian) that show a syndromic association with CRC, and 147 were cancer-free with a suggestive family history of CRC.
  
  
  RESULTS
  One mutation carrier was found who fulfills the Amsterdam criteria for Lynch Syndrome (LS). The prevalence of this mutation amongst LS Ashkenazim is 0·7%.
  
  
  CONCLUSIONS
  If validated in additional studies it seems rational to recommend to look for the GREM1 founder mutation in Ashkenazi individuals with multiple colorectal polyps and/or fulfill the criteria for LS.
authors.affiliation: The Susanne Levy Gertner Oncogenetics Unit,Institute of Human Genetics,Tel-Hashomer,Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Laitman
authors.affiliation: Molecular and Population Genetics and NIHR Comprehensive Biomedical Research Centre,Wellcome Trust Centre for Human Genetics,Roosevelt Drive,Oxford OX3 7BN,United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Jaeger
authors.affiliation: The Institute of Gastroenterology,Sheba Medical Center,Tel-Hashomer,Israel.
authors.forename: Lior
authors.initials: L
authors.lastname: Katz
authors.affiliation: Molecular and Population Genetics and NIHR Comprehensive Biomedical Research Centre,Wellcome Trust Centre for Human Genetics,Roosevelt Drive,Oxford OX3 7BN,United Kingdom.
authors.forename: Ian
authors.initials: I
authors.lastname: Tomlinson
authors.affiliation: The Susanne Levy Gertner Oncogenetics Unit,Institute of Human Genetics,Tel-Hashomer,Israel.
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D055815:Young Adult
chemical_list: C486399:GREM1 protein, human; D036341:Intercellular Signaling Peptides and Proteins