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Volumn 19, Issue 4, 2011, Pages 472-478

Prevalence of CDKN2A mutations in pancreatic cancer patients: Implications for genetic counseling

Author keywords

cyclin dependent kinase inhibitor p16; genes; p16; pancreatic neoplasms

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A;

EID: 79952742260     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.198     Document Type: Article
Times cited : (108)

References (40)
  • 1
    • 0014404860 scopus 로고
    • Heredity and malignant melanoma: Implications for early cancer detection
    • Lynch HT, Krush AJ: Heredity and malignant melanoma: implications for early cancer detection. Can Med Assoc J 1968; 99: 17-21
    • (1968) Can Med Assoc J , vol.99 , pp. 17-21
    • Lynch, H.T.1    Krush, A.J.2
  • 2
    • 0029129816 scopus 로고
    • Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations
    • Goldstein AM, Fraser MC, Struewing JP et al: Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. New Engl J Med 1995; 333: 970-974
    • (1995) New Engl J Med , vol.333 , pp. 970-974
    • Goldstein, A.M.1    Fraser, M.C.2    Struewing, J.P.3
  • 4
    • 0036143702 scopus 로고    scopus 로고
    • Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: The familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
    • DOI 10.1002/cncr.10159
    • Lynch HT, Brand RE, Hogg D et al: Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinomaprone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. Cancer 2002; 94: 84-96 (Pubitemid 34049045)
    • (2002) Cancer , vol.94 , Issue.1 , pp. 84-96
    • Lynch, H.T.1    Brand, R.E.2    Hogg, D.3    Deters, C.A.4    Fusaro, R.M.5    Lynch, J.F.6    Liu, L.7    Knezetic, J.8    Lassam, N.J.9    Goggins, M.10    Kern, S.11
  • 6
    • 33846630771 scopus 로고    scopus 로고
    • Hypermethylation of tumor suppressor genes BRCA1, p16 and 14-3-3σ in serum of sporadic breast cancer patients
    • DOI 10.1159/000096892
    • Jing F, Zhang J, Tao J et al: Hypermethylation of tumor suppressor genes BRCA1, p16 and 14-3-3sigma in serum of sporadic breast cancer patients. Onkologie 2007; 30: 14-19 (Pubitemid 46175615)
    • (2007) Onkologie , vol.30 , Issue.1-2 , pp. 14-19
    • Jing, F.1    Zhang, J.2    Tao, J.3    Zhou, Y.4    Jun, L.5    Tang, X.6    Wang, Y.7    Hai, H.8
  • 8
    • 58149229703 scopus 로고    scopus 로고
    • Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families
    • de Snoo FA, Bishop DT, Bergman Wet al: Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res 2008; 14: 7151-7157
    • (2008) Clin Cancer Res , vol.14 , pp. 7151-7157
    • De Snoo, F.A.1    Bishop, D.T.2    Bergman, W.3
  • 11
    • 0029054399 scopus 로고
    • Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16
    • Lukas J, Parry D, Aagaard L et al: Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16. Nature 1995; 375: 503-506
    • (1995) Nature , vol.375 , pp. 503-506
    • Lukas, J.1    Parry, D.2    Aagaard, L.3
  • 12
    • 56149102515 scopus 로고    scopus 로고
    • Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland
    • Debniak Ta, van de Wetering Ta, Scott Re et al: Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland. Eur J Cancer Prev 2008; 17: 389-391
    • (2008) Eur J Cancer Prev , vol.17 , pp. 389-391
    • Ta, D.1    Van De Wetering Ta2    Re, S.3
  • 14
    • 0033836334 scopus 로고    scopus 로고
    • Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden)
    • DOI 10.1002/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U
    • Vasen HFA, Gruis NA, Frants RR, van der Velden PA, Hille ETM, Bergman W: Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000; 87: 809-811 (Pubitemid 30660559)
    • (2000) International Journal of Cancer , vol.87 , Issue.6 , pp. 809-811
    • Vasen, H.F.A.1    Gruis, N.A.2    Frants, R.R.3    Van Der Velden, P.A.4    Hille, E.T.M.5    Bergman, W.6
  • 16
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • DOI 10.1093/nar/25.14.2745
    • Nickerson DA, Tobe VO, Taylor SL: PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25: 2745-2751 (Pubitemid 27299787)
    • (1997) Nucleic Acids Research , vol.25 , Issue.14 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 18
    • 0035102533 scopus 로고    scopus 로고
    • A marginal likelihood approach for estimating penetrance from kin-cohort designs
    • Chatterjee N, Wacholder S: A marginal likelihood approach for estimating penetrance from kin-cohort designs. Biometrics 2001; 57: 245-252 (Pubitemid 32200163)
    • (2001) Biometrics , vol.57 , Issue.1 , pp. 245-252
    • Chatterjee, N.1    Wacholder, S.2
  • 19
    • 0034671754 scopus 로고    scopus 로고
    • CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas
    • Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J: CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. Cancer Res 2000; 60: 6864-6867 (Pubitemid 32059154)
    • (2000) Cancer Research , vol.60 , Issue.24 , pp. 6864-6867
    • Hashemi, J.1    Platz, A.2    Ueno, T.3    Stierner, U.4    Ringborg, U.5    Hansson, J.6
  • 21
    • 33745190720 scopus 로고    scopus 로고
    • The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations
    • Spica T, Portela M, Gerard B et al: The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. J Invest Dermatol 2006; 126: 1657-1660
    • (2006) J Invest Dermatol , vol.126 , pp. 1657-1660
    • Spica, T.1    Portela, M.2    Gerard, B.3
  • 23
    • 0028085975 scopus 로고
    • Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
    • Kamb A, Shattuck-Eidens D, Eeles R et al: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994; 8: 23-26
    • (1994) Nat Genet , vol.8 , pp. 23-26
    • Kamb, A.1    Shattuck-Eidens, D.2    Eeles, R.3
  • 28
    • 0035179536 scopus 로고    scopus 로고
    • Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations
    • Orlow I, Roy P, Barz A, Canchola R, Song Y, Berwick M: Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations. J Mol Diagn 2001; 3: 158-163 (Pubitemid 33100336)
    • (2001) Journal of Molecular Diagnostics , vol.3 , Issue.4 , pp. 158-163
    • Orlow, I.1    Roy, P.2    Barz, A.3    Canchola, R.4    Song, Y.5    Berwick, M.6
  • 29
    • 4544274825 scopus 로고    scopus 로고
    • Familial melanoma, pancreatic cancer and germline CDKN2A mutations
    • Goldstein AM: Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat 2004; 23: 630
    • (2004) Hum Mutat , vol.23 , pp. 630
    • Goldstein, A.M.1
  • 30
    • 0041302145 scopus 로고    scopus 로고
    • ARF
    • DOI 10.1038/sj.onc.1206564
    • Rutter JL, Goldstein AM, Davila MR, Tucker MA, Struewing JP: CDKN2A point mutations D153spl(c.457G4T) and IVS2+1G4T result in aberrant splice products affecting both p16INK4a and p14ARF. Oncogene 2003; 22: 4444-4448 (Pubitemid 36897975)
    • (2003) Oncogene , vol.22 , Issue.28 , pp. 4444-4448
    • Rutter, J.L.1    Goldstein, A.M.2    Davila, M.R.3    Tucker, M.A.4    Struewing, J.P.5
  • 31
    • 0032900535 scopus 로고    scopus 로고
    • Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma
    • DOI 10.1038/5082
    • Liu L, Dilworth D, Gao L et al: Mutation of the CDKN2A 5¢ UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 1999; 21: 128-132 (Pubitemid 29036299)
    • (1999) Nature Genetics , vol.21 , Issue.1 , pp. 128-132
    • Liu, L.1    Dilworth, D.2    Gao, L.3    Monzon, J.4    Summers, A.5    Lassam, N.6    Hogg, D.7
  • 33
    • 0036143702 scopus 로고    scopus 로고
    • Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: The familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
    • DOI 10.1002/cncr.10159
    • Lynch HT, Brand RE, Hogg D et al: Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinomaprone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. Cancer 2002; 94: 84-96 (Pubitemid 34049045)
    • (2002) Cancer , vol.94 , Issue.1 , pp. 84-96
    • Lynch, H.T.1    Brand, R.E.2    Hogg, D.3    Deters, C.A.4    Fusaro, R.M.5    Lynch, J.F.6    Liu, L.7    Knezetic, J.8    Lassam, N.J.9    Goggins, M.10    Kern, S.11
  • 36
    • 70249098475 scopus 로고    scopus 로고
    • Selection criteria for genetic assessment of patients with familial melanoma
    • Leachman SA, Carucci J, Kohlmann W et al: Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad of Dermatol 2009; 61: 677.e1-677.e14
    • (2009) J Am Acad of Dermatol , vol.61
    • Leachman, S.A.1    Carucci, J.2    Kohlmann, W.3
  • 37
    • 2142645979 scopus 로고    scopus 로고
    • Clinical germline genetic testing for melanoma
    • DOI 10.1016/S1470-2045(04)01469-X, PII S147020450401469X
    • Hansen CB, Wadge LM, Lowstuter K, Boucher K, Leachman SA: Clinical germline genetic testing for melanoma. Lancet Oncol 2004; 5: 314-319 (Pubitemid 38541583)
    • (2004) Lancet Oncology , vol.5 , Issue.5 , pp. 314-319
    • Hansen, C.B.1    Wadge, L.M.2    Lowstuter, K.3    Boucher, K.4    Leachman, S.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.