title: Mutation profiling in gallbladder cancer in Indian population.
abstract: OBJECTIVE
  Gallbladder cancer is an aggressive malignancy usually diagnosed at late stage. The molecular genetics of this cancer is heterogeneous and not well established. Mutation profiling of gallbladder cancer was performed through massarray technology with an aim to identify molecular markers involved in the tumor pathogenesis that can be helpful as markers for early diagnosis and targets for therapy.
  
  
  METHODS
  Forty nine cases of gallbladder cancer were screened through Sequenom Massarray technology for 390 mutations across 30 genes in formalin fixed paraffin embedded archived tissues and the results of mutation profiling was correlated with tumor characteristics. Mutations were observed in 9 of 49 cases across four genes--TP53 (four cases), CTNNB1 (two cases), PIK3CA (two cases), and KRAS (one case). Six of these cases were well differentiated but of eight of them belonged to stage II to IV disease. Six cases had associated gallstones.
  
  
  CONCLUSIONS
  The mutation frequency found in gallbladder cancer is comparable to the data available in literature. Identification of PIK3CA and KRAS mutations would help in formulating more efficacious targeted approach for management. Studies with large number of cases would help in exploring more targets and better classification of these cancers at genetic level.
authors.affiliation: Departments of Pathology and Surgical Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, .
authors.forename: Niraj
authors.initials: N
authors.lastname: Kumari
authors.forename: Christopher L
authors.initials: CL
authors.lastname: Corless
authors.forename: Andrea
authors.initials: A
authors.lastname: Warrick
authors.forename: Carol
authors.initials: C
authors.lastname: Beadling
authors.forename: Dylan
authors.initials: D
authors.lastname: Nelson
authors.forename: Tanay
authors.initials: T
authors.lastname: Neff
authors.forename: Narendra
authors.initials: N
authors.lastname: Krishnani
authors.forename: Vinay Kumar
authors.initials: VK
authors.lastname: Kapoor
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D005706:Gallbladder Neoplasms / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras); D012189:Retrospective Studies; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D051176:beta Catenin / Q000235:genetics; D018631:ras Proteins / Q000235:genetics
chemical_list: C495270:CTNNB1 protein, human; C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051176:beta Catenin; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins
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