title: Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
abstract: Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3' end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3' end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families.
authors.affiliation: Cancer and Population Studies, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD, 4006, Australia, mark.clendenning@qimr.edu.au.
authors.forename: Mark
authors.initials: M
authors.lastname: Clendenning
authors.forename: Michael D
authors.initials: MD
authors.lastname: Walsh
authors.forename: Judith Balmana
authors.initials: JB
authors.lastname: Gelpi
authors.forename: Stephen N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: Noralane
authors.initials: N
authors.lastname: Lindor
authors.forename: John D
authors.initials: JD
authors.lastname: Potter
authors.forename: Polly
authors.initials: P
authors.lastname: Newcomb
authors.forename: Loic
authors.initials: L
authors.lastname: LeMarchand
authors.forename: Robert
authors.initials: R
authors.lastname: Haile
authors.forename: Steve
authors.initials: S
authors.lastname: Gallinger
authors.forename: John L
authors.initials: JL
authors.lastname: Hopper
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jenkins
authors.forename: Christophe
authors.initials: C
authors.lastname: Rosty
authors.forename: Joanne P
authors.initials: JP
authors.lastname: Young
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Buchanan
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D000070976:Mismatch Repair Endonuclease PMS2; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012042:Registries
chemical_list: D020413:3' Untranslated Regions; D004268:DNA-Binding Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes