Frequent activating GNAS mutations in villous adenoma of the colorectum

Journal of Pathology

Volumn 228, Issue 1, 2012, Pages 113-118

  Yamada, Masayoshi ^a   Sekine, Shigeki ^a   Ogawa, Reiko ^a   Taniguchi, Hirokazu ^a   Kushima, Ryoji ^a   Tsuda, Hitoshi ^a   Kanai, Yae ^a  

^a NATIONAL CANCER CENTER HOSPITAL   (Japan)

Author keywords

BRAF; colorectum; GNAS; KRAS; villous adenoma

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MISMATCH REPAIR PROTEIN;

ADENOMATOUS POLYP; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLORECTAL ADENOMA; COLORECTAL CARCINOMA; COLORECTAL TUMOR; FEMALE; GENE MUTATION; GNAS GENE; HUMAN; MALE; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; ONCOGENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TUBULOVILLOUS ADENOMA; VILLOUS ADENOMA;

ADENOCARCINOMA; ADENOMA, VILLOUS; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS;

EID: 84864744918     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4012     Document Type: Article

References (19)

1. Vogelstein B, Fearon ER, Hamilton SR, et al., Genetic alterations during colorectal tumor development. N Engl J Med 1988; 319: 525-532.
2. Leggett B, Whitehall V,. Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology 2010; 138: 2088-2100.
3. Maltzman T, Knoll K, Martinez ME, et al., Ki-ras proto-oncogene mutations in sporadic colorectal adenomas: relationship to histologic and clinical characteristics. Gastroenterology 2001; 121: 302-309.
4. Spring KJ, Zhao ZZ, Karamatic R, et al., High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopy. Gastroenterology 2006; 131: 1400-1407.
5. Landis CA, Masters SB, Spada A, et al., GTPase inhibiting mutations activate the α-chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989; 340: 692-696.
6. Lyons J, Landis CA, Harsh G, et al., Two G protein oncogenes in human endocrine tumors. Science 1990; 249: 655-659.
7. Wu J, Matthaei H, Maitra A, et al., Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 2011; 3: 92ra66.
8. Furukawa T, Kuboki Y, Tanji E, et al., Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci Rep 2011; 1: 161.
9. Wilson CH, McIntyre RE, Arends MJ, et al., The activating mutation R201C in GNAS promotes intestinal tumourigenesis in Apc(Min/+) mice through activation of Wnt and ERK1/2 MAPK pathways. Oncogene 2010; 29: 4567-4575.
10. Idziaszczyk S, Wilson CH, Smith CG, et al., Analysis of the frequency of GNAS codon 201 mutations in advanced colorectal cancer. Cancer Genet Cytogenet 2010; 202: 67-69.
11. Wood LD, Parsons DW, Jones S, et al., The genomic landscapes of human breast and colorectal cancers. Science 2007; 318: 1108-1113.
12. Hamilton S, Bosman F, Boffetta P, et al., Carcinoma of the colon and rectum. In WHO Classification of Tumours of the Digestive System, 4th edn. World Health Organization: Geneva, 2010; 134.
13. Losi L, Baisse B, Bouzourene H, et al., Evolution of intratumoral genetic heterogeneity during colorectal cancer progression. Carcinogenesis 2005; 26: 916-922.
14. Saraga E, Bautista D, Dorta G, et al., Genetic heterogeneity in sporadic colorectal adenomas. J Pathol 1997; 181: 281-286.
15. Shia J,. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008; 10: 293-300.
16. Furukawa T, Kloppel G, Volkan Adsay N, et al., Classification of types of intraductal papillary-mucinous neoplasm of the pancreas: a consensus study. Virchows Arch 2005; 447: 794-799.
17. McKittrick L, Wheelock F,. IX benign adenomatous polyp. In Carcinoma of the Colon. Charles C Thomas: Springfield, Illinois, 1954; 59-70.
18. Shnitka T, Friedman M, Kidd E, et al., Villous tumors of the rectum and colon characterized by severe fluid and electrolyte loss. Surg Gynecol Obstet 1961; 112: 609-621.
19. Jacob H, Schlondorff D, St Onge G, et al., Villous adenoma depletion syndrome. Evidence for a cyclic nucleotide-mediated diarrhea. Dig Dis Sci 1985; 30: 637-641.