title: Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency.
abstract: Mutation frequencies at 25 genes containing coding repeats were compared in colorectal, gastric, and endometrial mismatch repair-deficient (MSI-H) tumors. The overall number of mutations was significantly lower in endometrial than in gastrointestinal MSI-H cancers. Using a likelihood statistical method, target genes were divided in each tumor location into two groups likely to represent gene mutations that do or do not provide selective pressures during tumoral progression. Mutation profiles were quite similar in gastric and colorectal MSI-H cancers but were different in endometrial MSI-H tumors. Deletions in Bat-25 and Bat-26 noncoding repeats were also significantly less important in endometrial as compared with gastrointestinal MSI-H tumors. Our results show that the profile of target gene mutations in MSI-H tumors is tissue specific, with both qualitative and quantitative differences between gastrointestinal and endometrial MSI-H cancers.
authors.affiliation: INSERM U434-CEPH, 75010 Paris, France.
authors.forename: Alex
authors.initials: A
authors.lastname: Duval
authors.forename: Maryline
authors.initials: M
authors.lastname: Reperant
authors.forename: Aurore
authors.initials: A
authors.lastname: Compoint
authors.forename: Raquel
authors.initials: R
authors.lastname: Seruca
authors.forename: Guglielmina N
authors.initials: GN
authors.lastname: Ranzani
authors.forename: Barry
authors.initials: B
authors.lastname: Iacopetta
authors.forename: Richard
authors.initials: R
authors.lastname: Hamelin
mesh_terms: D020137:Base Pair Mismatch / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation; D013274:Stomach Neoplasms / Q000235:genetics*