title: Molecular spectrum of KRAS, NRAS, BRAF and PIK3CA mutations in Chinese colorectal cancer patients: analysis of 1,110 cases.
abstract: Mutations in genes such as KRAS, NRAS, BRAF and PIK3CA have become an important part of colorectal carcinoma evaluation. The aim of this study was to screen for mutations in these genes in Chinese patients with colorectal cancer (CRC) and to explore their correlations with certain clinicopathological parameters. We tested mutations in the KRAS (exons 2, 3 and 4), NRAS (exons 2, 3 and 4), PIK3CA (exon 20) and BRAF (exon 15) genes using reverse transcriptase-polymerase chain reaction (RT-PCR) and Sanger sequencing in a large cohort of 1,110 Chinese CRC patients who underwent surgical resection at one of three major teaching hospitals located in different regions of China. The prevalence rates of KRAS, NRAS, BRAF and PIK3CA mutations were 45.4%, 3.9%, 3.1% and 3.5%, respectively. Mutant KRAS was associated with the mucinous subtype and greater differentiation, while mutant BRAF was associated with right-sided tumors and poorer differentiation. Our results revealed differences in the genetic profiles of KRAS, NRAS, PIK3CA and BRAF at mutation hotspots between Chinese CRC patients and those of Western countries, while some of these gene features were shared among patients from other Asian countries.
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Pathology, Changhai Hospital of Shanghai, Shanghai, People's Republic of China.
authors.forename: Jianming
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Pathology, Fujian Medical University Union Hospital, Fuzhou, People's Republic of China.
authors.forename: Yinghong
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Junliang
authors.initials: J
authors.lastname: Lu
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Jie
authors.initials: J
authors.lastname: Gao
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Tao
authors.initials: T
authors.lastname: Lu
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Jian
authors.initials: J
authors.lastname: Sun
authors.affiliation: Department of Pathology, Changhai Hospital of Shanghai, Shanghai, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Pathology, Changhai Hospital of Shanghai, Shanghai, People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Pathology, Fujian Medical University Union Hospital, Fuzhou, People's Republic of China.
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Liang
authors.affiliation: Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People's Republic of China.
authors.forename: Tonghua
authors.initials: T
authors.lastname: Liu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D058534:Class I Phosphatidylinositol 3-Kinases; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D055815:Young Adult
chemical_list: D058534:Class I Phosphatidylinositol 3-Kinases; D020558:GTP Phosphohydrolases; D008565:Membrane Proteins; D019869:Phosphatidylinositol 3-Kinases; D048493:Proto-Oncogene Proteins B-raf; D016283:Proto-Oncogene Proteins p21(ras); C117307:KRAS protein, human; C484760:PIK3CA protein, human; C482119:BRAF protein, human; C579846:NRAS protein, human