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Volumn 190, Issue 6, 2013, Pages 1990-1998

Germline PTEN mutation Cowden syndrome: An underappreciated form of hereditary kidney cancer

Author keywords

Carcinoma, renal cell; Genetic diseases, inborn; Hamartoma syndrome, multiple

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EID: 84888638512     PISSN: 00225347     EISSN: 15273792     Source Type: Journal    
DOI: 10.1016/j.juro.2013.06.012     Document Type: Article
Times cited : (82)

References (29)
  • 1
    • 77952263737 scopus 로고    scopus 로고
    • The genetic basis of kidney cancer: A metabolic disease
    • Linehan WM, Srinivasan R and Schmidt LS: The genetic basis of kidney cancer: a metabolic disease. Nat Rev Urol 2010;7:277.
    • (2010) Nat Rev Urol , vol.7 , pp. 277
    • Linehan, W.M.1    Srinivasan, R.2    Schmidt, L.S.3
  • 2
    • 84868309625 scopus 로고    scopus 로고
    • Genetic basis of kidney cancer: Role of genomics for the development of diseasebased therapeutics
    • Linehan WM: Genetic basis of kidney cancer: role of genomics for the development of diseasebased therapeutics. Genome Res 2012;22:2089.
    • (2012) Genome Res , vol.22 , pp. 2089
    • Linehan, W.M.1
  • 3
    • 9144249602 scopus 로고    scopus 로고
    • Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    • Vanharanta S, Buchta M, McWhinney SR et al: Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004;74:153.
    • (2004) Am J Hum Genet , vol.74 , pp. 153
    • Vanharanta, S.1    Buchta, M.2    McWhinney, S.R.3
  • 4
    • 51749113159 scopus 로고    scopus 로고
    • Germline SDHB mutations and familial renal cell carcinoma
    • Ricketts C, Woodward ER, Killick P et al: Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 2008;100:1260.
    • (2008) J Natl Cancer Inst , vol.100 , pp. 1260
    • Ricketts, C.1    Woodward, E.R.2    Killick, P.3
  • 5
    • 82555205202 scopus 로고    scopus 로고
    • A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
    • Bertolotto C, Lesueur F, Giuliano S et al: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011;480:94.
    • (2011) Nature , vol.480 , pp. 94
    • Bertolotto, C.1    Lesueur, F.2    Giuliano, S.3
  • 6
    • 0001182707 scopus 로고
    • Cowden's disease. A possible new symptom complex with multiple system involvement
    • Lloyd KM and Dennis M: Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136.
    • (1963) Ann Intern Med , vol.58 , pp. 136
    • Lloyd, K.M.1    Dennis, M.2
  • 7
    • 0032905101 scopus 로고    scopus 로고
    • Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations
    • Nelen MR, Kremer H, Konings IB et al: Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999;7:267.
    • (1999) Eur J Hum Genet , vol.7 , pp. 267
    • Nelen, M.R.1    Kremer, H.2    Konings, I.B.3
  • 8
    • 17344363637 scopus 로고    scopus 로고
    • Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis
    • Lynch ED, Ostermeyer EA, Lee MK et al: Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am J Hum Genet 1997;61:1254.
    • (1997) Am J Hum Genet , vol.61 , pp. 1254
    • Lynch, E.D.1    Ostermeyer, E.A.2    Lee, M.K.3
  • 9
    • 2342458960 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
    • Pilarski R and Eng C: Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004;41:323.
    • (2004) J Med Genet , vol.41 , pp. 323
    • Pilarski, R.1    Eng, C.2
  • 10
    • 84860484167 scopus 로고    scopus 로고
    • Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome
    • Mester JL, Zhou M, Prescott N et al: Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology 2012;79:1187.
    • (2012) Urology , vol.79 , pp. 1187
    • Mester, J.L.1    Zhou, M.2    Prescott, N.3
  • 12
    • 0036681231 scopus 로고    scopus 로고
    • A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas
    • Gudbjartsson T, Jonasdottir TJ, Thoroddsen A et al: A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas. Int J Cancer 2002;100:476.
    • (2002) Int J Cancer , vol.100 , pp. 476
    • Gudbjartsson, T.1    Jonasdottir, T.J.2    Thoroddsen, A.3
  • 13
    • 84866070660 scopus 로고    scopus 로고
    • Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome
    • Mester J and Eng C: Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 2012;14:819.
    • (2012) Genet Med , vol.14 , pp. 819
    • Mester, J.1    Eng, C.2
  • 14
    • 78650908302 scopus 로고    scopus 로고
    • A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands
    • Tan MH, Mester J, Peterson C et al: A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 2011;88:42.
    • (2011) Am J Hum Genet , vol.88 , pp. 42
    • Tan, M.H.1    Mester, J.2    Peterson, C.3
  • 15
    • 0032522486 scopus 로고    scopus 로고
    • Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene
    • Schmidt L, Junker K, Weirich G et al: Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. Cancer Res 1998;58:1719.
    • (1998) Cancer Res , vol.58 , pp. 1719
    • Schmidt, L.1    Junker, K.2    Weirich, G.3
  • 19
    • 80053373522 scopus 로고    scopus 로고
    • Renal tumors associated with germline SDHB mutation show distinctive morphology
    • Gill AJ, Pachter NS, Chou A et al: Renal tumors associated with germline SDHB mutation show distinctive morphology. Am J Surg Pathol 2011;35:1578.
    • (2011) Am J Surg Pathol , vol.35 , pp. 1578
    • Gill, A.J.1    Pachter, N.S.2    Chou, A.3
  • 20
    • 34748836454 scopus 로고    scopus 로고
    • The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
    • Merino MJ, Torres-Cabala C, Pinto P et al: The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 2007;31:1578.
    • (2007) Am J Surg Pathol , vol.31 , pp. 1578
    • Merino, M.J.1    Torres-Cabala, C.2    Pinto, P.3
  • 21
    • 84869080815 scopus 로고    scopus 로고
    • Succinate dehydrogenase kidney cancer: An aggressive example of the warburg effect in cancer
    • Ricketts CJ, Shuch B, Vocke CD et al: Succinate dehydrogenase kidney cancer: an aggressive example of the warburg effect in cancer. J Urol 2012;188:2063.
    • (2012) J Urol , vol.188 , pp. 2063
    • Ricketts, C.J.1    Shuch, B.2    Vocke, C.D.3
  • 22
    • 21444432561 scopus 로고    scopus 로고
    • High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
    • Vocke CD, Yang Y, Pavlovich CP et al: High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005;97:931.
    • (2005) J Natl Cancer Inst , vol.97 , pp. 931
    • Vocke, C.D.1    Yang, Y.2    Pavlovich, C.P.3
  • 23
    • 38149094921 scopus 로고    scopus 로고
    • The UOK 257 cell line: A novel model for studies of the human Birt-Hogg-Dube gene pathway
    • Yang Y, Padilla-Nash HM, Vira MA et al: The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dube gene pathway. Cancer Genet Cytogenet 2008;180:100.
    • (2008) Cancer Genet Cytogenet , vol.180 , pp. 100
    • Yang, Y.1    Padilla-Nash, H.M.2    Vira, M.A.3
  • 24
    • 77950691315 scopus 로고    scopus 로고
    • VHL and PTEN loss coordinate to promote mouse liver vascular lesions
    • Chen S, Sanford CA, Sun J et al: VHL and PTEN loss coordinate to promote mouse liver vascular lesions. Angiogenesis 2010;13:59.
    • (2010) Angiogenesis , vol.13 , pp. 59
    • Chen, S.1    Sanford, C.A.2    Sun, J.3
  • 25
    • 47049090632 scopus 로고    scopus 로고
    • Pvhl and PTEN tumour suppressor proteins cooperatively suppress kidney cyst formation
    • Frew IJ, Thoma CR, Georgiev S et al: pVHL and PTEN tumour suppressor proteins cooperatively suppress kidney cyst formation. EMBO J 2008;27:1747.
    • (2008) EMBO J , vol.27 , pp. 1747
    • Frew, I.J.1    Thoma, C.R.2    Georgiev, S.3
  • 26
    • 80055077133 scopus 로고    scopus 로고
    • Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells
    • Konishi H, Mohseni M, Tamaki A et al: Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells. Proc Natl Acad Sci U S A 2011;108:17773.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 17773
    • Konishi, H.1    Mohseni, M.2    Tamaki, A.3
  • 27
    • 78650990540 scopus 로고    scopus 로고
    • The mammalian target of rapamycin pathway is widely activated without PTEN deletion in renal cell carcinoma metastases
    • Abou YT, Fahmy MA, Koumakpayi IH et al: The mammalian target of rapamycin pathway is widely activated without PTEN deletion in renal cell carcinoma metastases. Cancer 2011;117:290.
    • (2011) Cancer , vol.117 , pp. 290
    • Abou, Y.T.1    Fahmy, M.A.2    Koumakpayi, I.H.3
  • 28
    • 35348858663 scopus 로고    scopus 로고
    • Potential histologic and molecular predictors of response to temsirolimus in patients with advanced renal cell carcinoma
    • Cho D, Signoretti S, Dabora S et al: Potential histologic and molecular predictors of response to temsirolimus in patients with advanced renal cell carcinoma. Clin Genitourin Cancer 2007;5:379.
    • (2007) Clin Genitourin Cancer , vol.5 , pp. 379
    • Cho, D.1    Signoretti, S.2    Dabora, S.3
  • 29
    • 52049126174 scopus 로고    scopus 로고
    • Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin
    • Squarize CH, Castilho RM and Gutkind JS: Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin. Cancer Res 2008;68:7066.
    • (2008) Cancer Res , vol.68 , pp. 7066
    • Squarize, C.H.1    Castilho, R.M.2    Gutkind, J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.