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MeSH Review

Hamartoma Syndrome, Multiple

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Disease relevance of Hamartoma Syndrome, Multiple


High impact information on Hamartoma Syndrome, Multiple


Chemical compound and disease context of Hamartoma Syndrome, Multiple


Biological context of Hamartoma Syndrome, Multiple


Anatomical context of Hamartoma Syndrome, Multiple


Gene context of Hamartoma Syndrome, Multiple


  1. Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. Chi, S.G., Kim, H.J., Park, B.J., Min, H.J., Park, J.H., Kim, Y.W., Dong, S.H., Kim, B.H., Lee, J.I., Chang, Y.W., Chang, R., Kim, W.K., Yang, M.H. Gastroenterology (1998) [Pubmed]
  2. Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Lynch, E.D., Ostermeyer, E.A., Lee, M.K., Arena, J.F., Ji, H., Dann, J., Swisshelm, K., Suchard, D., MacLeod, P.M., Kvinnsland, S., Gjertsen, B.T., Heimdal, K., Lubs, H., Møller, P., King, M.C. Am. J. Hum. Genet. (1997) [Pubmed]
  3. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Marsh, D.J., Coulon, V., Lunetta, K.L., Rocca-Serra, P., Dahia, P.L., Zheng, Z., Liaw, D., Caron, S., Duboué, B., Lin, A.Y., Richardson, A.L., Bonnetblanc, J.M., Bressieux, J.M., Cabarrot-Moreau, A., Chompret, A., Demange, L., Eeles, R.A., Yahanda, A.M., Fearon, E.R., Fricker, J.P., Gorlin, R.J., Hodgson, S.V., Huson, S., Lacombe, D., Eng, C. Hum. Mol. Genet. (1998) [Pubmed]
  4. High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice. Suzuki, A., de la Pompa, J.L., Stambolic, V., Elia, A.J., Sasaki, T., del Barco Barrantes, I., Ho, A., Wakeham, A., Itie, A., Khoo, W., Fukumoto, M., Mak, T.W. Curr. Biol. (1998) [Pubmed]
  5. Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. Stratakis, C.A., Kirschner, L.S., Taymans, S.E., Tomlinson, I.P., Marsh, D.J., Torpy, D.J., Giatzakis, C., Eccles, D.M., Theaker, J., Houlston, R.S., Blouin, J.L., Antonarakis, S.E., Basson, C.T., Eng, C., Carney, J.A. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  6. Pten is essential for embryonic development and tumour suppression. Di Cristofano, A., Pesce, B., Cordon-Cardo, C., Pandolfi, P.P. Nat. Genet. (1998) [Pubmed]
  7. Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. Kurose, K., Araki, T., Matsunaka, T., Takada, Y., Emi, M. Am. J. Hum. Genet. (1999) [Pubmed]
  8. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Nelen, M.R., van Staveren, W.C., Peeters, E.A., Hassel, M.B., Gorlin, R.J., Hamm, H., Lindboe, C.F., Fryns, J.P., Sijmons, R.H., Woods, D.G., Mariman, E.C., Padberg, G.W., Kremer, H. Hum. Mol. Genet. (1997) [Pubmed]
  9. PTEN/MMAC1 mutations in endometrial cancers. Risinger, J.I., Hayes, A.K., Berchuck, A., Barrett, J.C. Cancer Res. (1997) [Pubmed]
  10. The lipid phosphatase activity of PTEN is critical for its tumor supressor function. Myers, M.P., Pass, I., Batty, I.H., Van der Kaay, J., Stolarov, J.P., Hemmings, B.A., Wigler, M.H., Downes, C.P., Tonks, N.K. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesis. Aldred, M.A., Ginn-Pease, M.E., Morrison, C.D., Popkie, A.P., Gimm, O., Hoang-Vu, C., Krause, U., Dralle, H., Jhiang, S.M., Plass, C., Eng, C. Cancer Res. (2003) [Pubmed]
  12. Cowden's disease (multiple hamartoma and neoplasia syndrome) treated with isotretinoin. Lazar, A.P., Lazar, P. J. Am. Acad. Dermatol. (1986) [Pubmed]
  13. Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. Stratakis, C.A. Horm. Res. (2000) [Pubmed]
  14. Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis. Kato, M., Mizuki, A., Hayashi, T., Kunihiro, T., Nagata, H., Tsukada, N., Orikasa, H., Morinaga, S. Intern. Med. (2000) [Pubmed]
  15. Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. Trojan, J., Plotz, G., Brieger, A., Raedle, J., Meltzer, S.J., Wolter, M., Zeuzem, S. J. Invest. Dermatol. (2001) [Pubmed]
  16. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Robinson, S., Cohen, A.R. Neurosurgery (2000) [Pubmed]
  17. Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. Frayling, I.M., Bodmer, W.F., Tomlinson, I.P. Cancer Genet. Cytogenet. (1997) [Pubmed]
  18. Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. Blum, R.R., Rahimizadeh, A., Kardon, N., Lebwohl, M., Wei, H. Journal of cutaneous medicine and surgery. (2001) [Pubmed]
  19. PTEN expression is reduced in a subset of sporadic thyroid carcinomas: evidence that PTEN-growth suppressing activity in thyroid cancer cells mediated by p27kip1. Bruni, P., Boccia, A., Baldassarre, G., Trapasso, F., Santoro, M., Chiappetta, G., Fusco, A., Viglietto, G. Oncogene (2000) [Pubmed]
  20. Management of women with a family history of breast cancer. Curry, P., Fentiman, I.S. International journal of clinical practice. (1999) [Pubmed]
  21. Alternative splicing of the Drosophila PTEN gene. Smith, A., Smith, A., Alrubaie, S., Coehlo, C., Leevers, S.J., Ashworth, A. Biochim. Biophys. Acta (1999) [Pubmed]
  22. Effect of Helicobacter pylori eradication on gastric hyperplastic polyposis in Cowden's disease. Isomoto, H., Furusu, H., Ohnita, K., Takehara, Y., Wen, C.Y., Kohno, S. World J. Gastroenterol. (2005) [Pubmed]
  23. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Robinson, S., Cohen, A.R. Neurosurgical focus [electronic resource]. (2006) [Pubmed]
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