Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease

Pathobiology

Volumn 70, Issue 1, 2002, Pages 34-39

  Kanaseki, Takayuki ^a   Torigoe, Toshihiko ^a   Hirohashi, Yoshihiko ^a   Hirai, Itaru ^a   Himi, Tetsuo ^a   Sato, Noriyuki ^a  

^a SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

A23187; Apoptosis; Cowden disease; Germline mutation; PTEN

Indexed keywords

MUTANT PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; REGULATOR PROTEIN;

ADULT; APOPTOSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; COWDEN SYNDROME; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

APOPTOSIS; B-LYMPHOCYTES; BASE SEQUENCE; CALCIMYCIN; CELL SURVIVAL; CELL TRANSFORMATION, VIRAL; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; IONOPHORES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 0036970913     PISSN: 10152008     EISSN: None     Source Type: Journal    
DOI: 10.1159/000066001     Document Type: Article

References (18)

1. Lloyd KMD M: Cowden's disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136-142.
2. Weary PE, Gorlin RJ, Gentry WC Jr, Comer JE, Greer KE: Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol 1972;106:682-690.
3. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997;275:1943-1947.
4. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV: Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 1997;15:356-362.
5. Rhei E, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J: Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res 1997;57:3657-3659.
6. Risinger JI, Hayes AK, Berchuck A, Barrett JC: PTEN/MMAC1 mutations in endometrial cancers. Cancer Res 1997;57:4736-4738.
7. Pesche S, Latil A, Muzeau F, Cussenot O, Fournier G, Longy M, Eng C, Lidereau R: PTEN/MMAC1/TEP1 involvement in primary prostate cancers. Oncogene 1998;16:2879-2883.
8. Yao YJ, Ping XL, Zhang H, Chen FF, Lee PK, Ahsan H, Chen CJ, Lee PH, Peacocke M, Santella RM, Tsou HC: PTEN/MMAC1 mutations in hepatocellular carcinomas. Oncogene 1999;18:3181-3185.
9. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-1472.
10. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C: Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114-116.
11. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP: Pten is essential for embryonic development and tumour suppression. Nat Genet 1998;19:348-355.
12. Myers MP, Stolarov JP, Eng C, Li J, Wang SI, Wigler MH, Parsons R, Tonks NK: P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci USA 1997;94:9052-9057.
13. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW: Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 1998;95:29-39.
14. Wu X, Senechal K, Neshat MS, Whang YE, Sawyers CL: The PTEN/MMAC1 tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway. Proc Natl Acad Sci USA 1998;95:15587-15591.
15. Haas-Kogan D, Shalev N, Wong M, Mills G, Yount G, Stokoe D: Protein kinase B (PKB/Akt) activity is elevated in glioblastoma cells due to mutation of the tumor suppressor PTEN/MMAC. Curr Biol 1998;8:1195-1198.
16. Kurose K, Bando K, Fukino K, Sugisaki Y, Araki T, Emi M: Somatic mutations of the PTEN/MMAC1 gene in fifteen Japanese endometrial cancers: Evidence for inactivation of both alleles. Jpn J Cancer Res 1998;89:842-848.
17. Wu X, Hepner K, Castelino-Prabhu S, Do D, Kaye MB, Yuan XJ, Wood J, Ross C, Sawyers CL, Whang YE: Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2. Proc Natl Acad Sci USA 2000;97:4233-4238.
18. Georgescu MM, Kirsch KH, Akagi T, Shishido T, Hanafusa H: The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. Proc Natl Acad Sci USA 1999;96: 10182-10187.