title: Mutations of rabphillin-3A-like gene in colorectal cancers.
abstract: The chromosome region 17p shows frequently allele losses/mutations in colorectal cancers, and such frequent genetic alterations are a hallmark of the presence of tumor-suppressor gene. The RPH3AL, which is located at 17p13, has been identified from a candidate 17p13 medulloblastoma tumor suppressor locus. The aim of this study was to determine whether it is also altered in colorectal cancers. Mutational analyses of the RPH3AL gene were performed on DNA samples from 50 primary colorectal cancer specimens using polymerase chain reaction-single strand conformation polymorphism, and DNA sequencing. Six missense mutations producing amino acid substitution in coding region of the RPH3AL gene were detected in 50 primary colorectal cancer patients. The RPH3AL gene may play a role as a tumor-suppressor gene in fraction of colorectal cancers, but a minority show RPH3AL gene mutations. Somatic RPH3AL mutations were identified, providing support for an authentic role as tumor-suppressor gene in colorectal cancer, but only in a minority of cases.
authors.affiliation: Department of Surgery I, Fukui Medical University, Matsuoka-cho, Yoshida-gun, Fukui 910-1193, Japan. tgoi@fmsrsa.fukui-med.ac.jp
authors.forename: Takanori
authors.initials: T
authors.lastname: Goi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Takeuchi
authors.forename: Kanji
authors.initials: K
authors.lastname: Katayama
authors.forename: Kazuo
authors.initials: K
authors.lastname: Hirose
authors.forename: Akio
authors.initials: A
authors.lastname: Yamaguchi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020691:rab GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D017931:DNA Primers; D004273:DNA, Neoplasm; C120704:RPH3AL protein, human; D020691:rab GTP-Binding Proteins