title: PIK3CA gene mutations and amplifications in Chinese patients with ovarian clear cell carcinoma.
abstract: The role of genetic alterations in PIK3CA gene has not been fully explored in ovarian clear cell carcinoma (OCCC). The present study was undertaken to assess mutations and amplifications of exons 9 and 20 of PIK3CA in 51 Chinese OCCC patients. Activating missense mutations of PIK3CA were found in nine (17.6%) cases. One novel mutation T544P was identified in exon 9 which can increase AKT phosphorylation in cell culture. Amplifications of PIK3CA were observed in six cases (11.8%). PIK3CA mutations and amplifications are mutually exclusive. Our study demonstrates relatively low frequency of PIK3CA mutations and amplifications in OCCC.
authors.affiliation: 1School of Public Health, Medical College, Wuhan University of Science and Technology, Wuhan, Hubei, China.
authors.forename: Gaofeng
authors.initials: G
authors.lastname: Jiang
authors.forename: Zhixiong
authors.initials: Z
authors.lastname: Huang
authors.forename: Shuangling
authors.initials: S
authors.lastname: Zhang
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics*; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D045744:Cell Line, Tumor; D002681:China; D058534:Class I Phosphatidylinositol 3-Kinases; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D010766:Phosphorylation / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000378:metabolism; D014162:Transfection
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; D051057:Proto-Oncogene Proteins c-akt