title: Identification of candidate oncogenes in human colorectal cancers with microsatellite instability.
abstract: Microsatellite instability can be found in approximately 15% of all colorectal cancers. To detect new oncogenes we sequenced the exomes of 25 colorectal tumors and respective healthy colon tissue. Potential mutation hot spots were confirmed in 15 genes; ADAR, DCAF12L2, GLT1D1, ITGA7, MAP1B, MRGPRX4, PSRC1, RANBP2, RPS6KL1, SNCAIP, TCEAL6, TUBB6, WBP5, VEGFB, and ZBTB2; these were validated in 86 tumors with microsatellite instability. ZBTB2, RANBP2, and PSRC1 also were found to contain hot spot mutations in the validation set. The form of ZBTB2 associated with colorectal cancer increased cell proliferation. The mutation hot spots might be used to develop personalized tumor profiling and therapy.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
authors.forename: Alexandra E
authors.initials: AE
authors.lastname: Gylfe
authors.forename: Johanna
authors.initials: J
authors.lastname: Kondelin
authors.forename: Mikko
authors.initials: M
authors.lastname: Turunen
authors.forename: Heikki
authors.initials: H
authors.lastname: Ristolainen
authors.forename: Riku
authors.initials: R
authors.lastname: Katainen
authors.forename: Esa
authors.initials: E
authors.lastname: Pitkänen
authors.forename: Eevi
authors.initials: E
authors.lastname: Kaasinen
authors.forename: Ville
authors.initials: V
authors.lastname: Rantanen
authors.forename: Tomas
authors.initials: T
authors.lastname: Tanskanen
authors.forename: Markku
authors.initials: M
authors.lastname: Varjosalo
authors.forename: Heli
authors.initials: H
authors.lastname: Lehtonen
authors.forename: Kimmo
authors.initials: K
authors.lastname: Palin
authors.forename: Minna
authors.initials: M
authors.lastname: Taipale
authors.forename: Jussi
authors.initials: J
authors.lastname: Taipale
authors.forename: Laura
authors.initials: L
authors.lastname: Renkonen-Sinisalo
authors.forename: Heikki
authors.initials: H
authors.lastname: Järvinen
authors.forename: Jan
authors.initials: J
authors.lastname: Böhm
authors.forename: Jukka-Pekka
authors.initials: JP
authors.lastname: Mecklin
authors.forename: Ari
authors.initials: A
authors.lastname: Ristimäki
authors.forename: Outi
authors.initials: O
authors.lastname: Kilpivaara
authors.forename: Sari
authors.initials: S
authors.lastname: Tuupanen
authors.forename: Auli
authors.initials: A
authors.lastname: Karhu
authors.forename: Pia
authors.initials: P
authors.lastname: Vahteristo
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000368:Aged; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D053842:Microsatellite Instability; D009857:Oncogenes; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers
keywords: CRC; Exome Sequencing; Genetic Analysis; MSI; Mismatch Repair; PCR; colorectal cancer; microsatellite instability; polymerase chain reaction