메뉴 건너뛰기




Volumn 236, Issue 6, 2002, Pages 730-737

CDKN2A germline mutations in familial pancreatic cancer

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN CDKN2A; PROTEIN P14; PROTEIN P16; UNCLASSIFIED DRUG;

EID: 0036895738     PISSN: 00034932     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000658-200212000-00005     Document Type: Article
Times cited : (159)

References (47)
  • 2
    • 0031665514 scopus 로고    scopus 로고
    • Prognostic factors in ductal pancreatic cancer
    • Yeo CJ, Cameron JL. Prognostic factors in ductal pancreatic cancer. Langenbecks Arch Surg 1998; 383:129-133.
    • (1998) Langenbecks Arch Surg , vol.383 , pp. 129-133
    • Yeo, C.J.1    Cameron, J.L.2
  • 3
    • 0028328255 scopus 로고
    • Genetics and pancreatic cancer
    • Lynch HT. Genetics and pancreatic cancer. Arch Surg 1994; 129:266-268.
    • (1994) Arch Surg , vol.129 , pp. 266-268
    • Lynch, H.T.1
  • 4
    • 0000326959 scopus 로고    scopus 로고
    • Familial aggregation of other cancers in families with pancreatic cancer
    • Crowley KE, Aston CE, McNamara PJ, et al. Familial aggregation of other cancers in families with pancreatic cancer. Am J Hum Genet 1997; 61:A196.
    • (1997) Am J Hum Genet , vol.61
    • Crowley, K.E.1    Aston, C.E.2    McNamara, P.J.3
  • 6
    • 0032807116 scopus 로고    scopus 로고
    • Familial pancreatic cancer
    • Hruban RH, Petersen GM, Goggins M, et al. Familial pancreatic cancer. Ann Oncol 1999; 10(suppl 4):69-73.
    • (1999) Ann Oncol , vol.10 , Issue.SUPPL. 4 , pp. 69-73
    • Hruban, R.H.1    Petersen, G.M.2    Goggins, M.3
  • 7
    • 0035552527 scopus 로고    scopus 로고
    • Update of familial pancreatic cancer in Germany
    • Bartsch DK, Sina-Frey M, Ziegler A, et al. Update of familial pancreatic cancer in Germany. Pancreatology 2001; 1:510-516.
    • (2001) Pancreatology , vol.1 , pp. 510-516
    • Bartsch, D.K.1    Sina-Frey, M.2    Ziegler, A.3
  • 8
  • 9
    • 0023192463 scopus 로고
    • Increased risk of cancer in the Peutz-Jeghers syndrome
    • Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987; 316:1511-1514.
    • (1987) N Engl J Med , vol.316 , pp. 1511-1514
    • Giardiello, F.M.1    Welsh, S.B.2    Hamilton, S.R.3
  • 10
    • 0011810833 scopus 로고
    • Ataxia teleangiectatica
    • McKusick MA, ed. Baltimore: John Hopkins University Press
    • McKusick VA. Ataxia teleangiectatica. In: McKusick MA, ed. Mendelian Inheritance in Man, 9th Ed. Baltimore: John Hopkins University Press, 1990:68-78.
    • (1990) Mendelian Inheritance in Man, 9th Ed. , pp. 68-78
    • McKusick, V.A.1
  • 11
    • 0027248156 scopus 로고
    • Genetics, natural history, tumor spectrum, and pathology of hereditary non-polyposis colorectal cancer: An updated review
    • Lynch HT, Smyrk TC, Watson P, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary non-polyposis colorectal cancer: An updated review. Gastroenterology 1993; 104:1535-1549.
    • (1993) Gastroenterology , vol.104 , pp. 1535-1549
    • Lynch, H.T.1    Smyrk, T.C.2    Watson, P.3
  • 12
    • 0014587529 scopus 로고
    • Soft tissue sarcomas, breast cancer, and other neoplasms: A familial syndrome?
    • Li FP, Fraumeni JF Jr. Soft tissue sarcomas, breast cancer, and other neoplasms: A familial syndrome? Ann Intern Med 1969; 71:747-752.
    • (1969) Ann Intern Med , vol.71 , pp. 747-752
    • Li, F.P.1    Fraumeni J.F., Jr.2
  • 13
    • 0026537747 scopus 로고
    • The risk of upper gastrointestinal cancer in familial adenomatous polyposis
    • Johan G, Offerhaus A, Giardiello FM, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102:1980-1982.
    • (1992) Gastroenterology , vol.102 , pp. 1980-1982
    • Johan, G.1    Offerhaus, A.2    Giardiello, F.M.3
  • 14
    • 0030137718 scopus 로고    scopus 로고
    • Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families
    • Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nature Genet 1996; 13:120-122.
    • (1996) Nature Genet , vol.13 , pp. 120-122
    • Phelan, C.M.1    Lancaster, J.M.2    Tonin, P.3
  • 15
    • 0025284650 scopus 로고
    • Systemic cancer and the FAMMM syndrome
    • Bergmann W, Watson P, de Jong J, et al. Systemic cancer and the FAMMM syndrome. Br J Cancer 1990; 61:932-936.
    • (1990) Br J Cancer , vol.61 , pp. 932-936
    • Bergmann, W.1    Watson, P.2    De Jong, J.3
  • 16
    • 0027769876 scopus 로고
    • A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4
    • Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993; 366:704-707.
    • (1993) Nature , vol.366 , pp. 704-707
    • Serrano, M.1    Hannon, G.J.2    Beach, D.3
  • 17
    • 0032169516 scopus 로고    scopus 로고
    • The alternative product from the human CDKN2a locus, p14 (ARF), participates in a regulatory feedback loop with p53 and MDM2
    • Stott FJ, Bates S, James MC, et al. The alternative product from the human CDKN2a locus, p14 (ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J 1998; 17:5001-5014.
    • (1998) EMBO J , vol.17 , pp. 5001-5014
    • Stott, F.J.1    Bates, S.2    James, M.C.3
  • 18
    • 14444284330 scopus 로고    scopus 로고
    • Tumor suppressing pathways in pancreatic carcinomas
    • Rozenblum E, Schutte M, Goggins M, et al. Tumor suppressing pathways in pancreatic carcinomas. Cancer Res 1997; 57:1731-1734.
    • (1997) Cancer Res , vol.57 , pp. 1731-1734
    • Rozenblum, E.1    Schutte, M.2    Goggins, M.3
  • 19
    • 0029102927 scopus 로고
    • Brief report: A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene
    • Whelan AJ, Bartsch D, Goodfellow PJ. Brief report: A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N Engl J Med 1995; 333:975-977.
    • (1995) N Engl J Med , vol.333 , pp. 975-977
    • Whelan, A.J.1    Bartsch, D.2    Goodfellow, P.J.3
  • 20
    • 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. N Engl J Med 1995; 333:970-974.
    • (1995) N Engl J Med , vol.333 , pp. 970-974
    • Goldstein, A.M.1    Fraser, M.C.2    Struewing, J.P.3
  • 21
    • 0032222915 scopus 로고    scopus 로고
    • Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148
    • Moskaluk CA, Hruban H, Lietman A, et al. Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Hum Mutat 1998; 12:70.
    • (1998) Hum Mutat , vol.12 , pp. 70
    • Moskaluk, C.A.1    Hruban, H.2    Lietman, A.3
  • 22
    • 0035817722 scopus 로고    scopus 로고
    • A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF
    • Rizos H, Puig S, Badenas C, et al. A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF. Oncogene 2001; 20:5543-5547.
    • (2001) Oncogene , vol.20 , pp. 5543-5547
    • Rizos, H.1    Puig, S.2    Badenas, C.3
  • 23
    • 0002538655 scopus 로고
    • Sample preparation from paraffin-embedded tissues
    • Innis MA, Gelfand DH, Sninsky JJ, et al, eds. San Diego: Academic Press
    • Wright DK, Manos MM. Sample preparation from paraffin-embedded tissues. In: Innis MA, Gelfand DH, Sninsky JJ, et al, eds. PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, 1990:153-158.
    • (1990) PCR Protocols: A Guide to Methods and Applications , pp. 153-158
    • Wright, D.K.1    Manos, M.M.2
  • 24
    • 0036006684 scopus 로고    scopus 로고
    • INK4a is a prognostic marker in resected ductal pancreatic cancer
    • INK4a is a prognostic marker in resected ductal pancreatic cancer. Ann Surg 2002; 235:51-59.
    • (2002) Ann Surg , vol.235 , pp. 51-59
    • Gerdes, B.1    Ramaswamy, A.2    Ziegler, A.3
  • 26
    • 0023233894 scopus 로고
    • Familial pancreatic adenocarcinoma in three generations: A case report and review of the literature
    • Ehrenthal D, Haeger L, Griffin T, et al. Familial pancreatic adenocarcinoma in three generations: A case report and review of the literature. Cancer 1987; 59:1661-1664.
    • (1987) Cancer , vol.59 , pp. 1661-1664
    • Ehrenthal, D.1    Haeger, L.2    Griffin, T.3
  • 27
    • 18244415109 scopus 로고
    • Familial pancreatic cancer
    • Grajower MM. Familial pancreatic cancer. Ann Intern Med 1983; 98:111.
    • (1983) Ann Intern Med , vol.98 , pp. 111
    • Grajower, M.M.1
  • 28
    • 0030665320 scopus 로고    scopus 로고
    • Hereditary pancreatitis and familial pancreatic cancer
    • Finch MD, Howes N, Ellis I, et al. Hereditary pancreatitis and familial pancreatic cancer. Digestion 1997; 58:564-569.
    • (1997) Digestion , vol.58 , pp. 564-569
    • Finch, M.D.1    Howes, N.2    Ellis, I.3
  • 29
    • 0034901004 scopus 로고    scopus 로고
    • Increased risk of incident pancreatic cancer among first-degree relatives of patients with familial pancreatic cancer
    • Tersmette AC, Petersen GM, Offerhaus GJ, et al. Increased risk of incident pancreatic cancer among first-degree relatives of patients with familial pancreatic cancer. Clin Cancer Res 2001; 7:738-744.
    • (2001) Clin Cancer Res , vol.7 , pp. 738-744
    • Tersmette, A.C.1    Petersen, G.M.2    Offerhaus, G.J.3
  • 30
    • 0025055664 scopus 로고
    • Familial pancreatic cancer: Clinicopathologic study of 18 nuclear families
    • Lynch HT, Fitzsimmons ML, Smyrk TC. Familial pancreatic cancer: Clinicopathologic study of 18 nuclear families. Am J Gastroenterol 1990; 85:54-60.
    • (1990) Am J Gastroenterol , vol.85 , pp. 54-60
    • Lynch, H.T.1    Fitzsimmons, M.L.2    Smyrk, T.C.3
  • 31
    • 0028906819 scopus 로고
    • Medical genetic study of eight pancreatic cancer prone families
    • Lynch HT, Fusaro L, Smyrk TC, et al. Medical genetic study of eight pancreatic cancer prone families. Cancer Invest 1995; 13:141-149.
    • (1995) Cancer Invest , vol.13 , pp. 141-149
    • Lynch, H.T.1    Fusaro, L.2    Smyrk, T.C.3
  • 33
    • 0030025518 scopus 로고    scopus 로고
    • Compilation of somatic mutations of the CDKN2 gene in human cancers: Non-random distribution of base substitutions
    • Pollock PM, Pearson JV, Hayward NK. Compilation of somatic mutations of the CDKN2 gene in human cancers: Non-random distribution of base substitutions. Genes Chromosome Cancer 1996; 15:77-88.
    • (1996) Genes Chromosome Cancer , vol.15 , pp. 77-88
    • Pollock, P.M.1    Pearson, J.V.2    Hayward, N.K.3
  • 34
    • 0034650411 scopus 로고    scopus 로고
    • Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations
    • Lal G, Liu G, Schmocker B, et al. Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 2000; 60:409-416.
    • (2000) Cancer Res , vol.60 , pp. 409-416
    • Lal, G.1    Liu, G.2    Schmocker, B.3
  • 35
    • 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
  • 36
    • 0029038538 scopus 로고
    • CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families
    • Gruis NA, Sandkuijl LA, van der Velden PA, et al. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 1995; 5:169-177.
    • (1995) Melanoma Res , vol.5 , pp. 169-177
    • Gruis, N.A.1    Sandkuijl, L.A.2    Van der Velden, P.A.3
  • 37
    • 0031582331 scopus 로고    scopus 로고
    • Screening for CDKN2a mutations in hereditary melanoma
    • Goldstein AM, Tucker MA. Screening for CDKN2a mutations in hereditary melanoma. J Natl Cancer Inst 1997; 89:676-677.
    • (1997) J Natl Cancer Inst , vol.89 , pp. 676-677
    • Goldstein, A.M.1    Tucker, M.A.2
  • 38
    • 0032859717 scopus 로고    scopus 로고
    • Characterization of lingurian melanoma families and risk of occurrence of other neoplasia
    • Ghiorzo P, Ciotto P, Martelli M, et al. Characterization of lingurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 1999; 83:441-448.
    • (1999) Int J Cancer , vol.83 , pp. 441-448
    • Ghiorzo, P.1    Ciotto, P.2    Martelli, M.3
  • 40
    • 0034596343 scopus 로고    scopus 로고
    • High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2a mutation-positive melanoma families
    • Borg A, Sandberg T, Nilson K, et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2a mutation-positive melanoma families. J Natl Cancer Inst 2000; 92:1260-1266.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1260-1266
    • Borg, A.1    Sandberg, T.2    Nilson, K.3
  • 41
    • 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
    • Lynch HT, Brand RE, Hogg D, et al. 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. Cancer 2002; 94:84-96.
    • (2002) Cancer , vol.94 , pp. 84-96
    • Lynch, H.T.1    Brand, R.E.2    Hogg, D.3
  • 42
    • 0033743886 scopus 로고    scopus 로고
    • Multiple primary tumors as an indicator for p16INK4a germline mutations in pancreatic cancer patients?
    • Gerdes B, Bartsch DK, Ramaswamy A, et al. Multiple primary tumors as an indicator for p16INK4a germline mutations in pancreatic cancer patients? Pancreas 2000; 21:369-375.
    • (2000) Pancreas , vol.21 , pp. 369-375
    • Gerdes, B.1    Bartsch, D.K.2    Ramaswamy, A.3
  • 43
    • 0001301830 scopus 로고    scopus 로고
    • Smoking as a risk factor in familial pancreatic cancer kindreds
    • Rulyak SJ, Lowenfels AB, Maisonneuve P, et al. Smoking as a risk factor in familial pancreatic cancer kindreds. Pancreatology 2001; 1:551.
    • (2001) Pancreatology , vol.1 , pp. 551
    • Rulyak, S.J.1    Lowenfels, A.B.2    Maisonneuve, P.3
  • 44
    • 0034697655 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2a and CDK4 mutations
    • Goldstein AM, Struewing JP, Chidambaram A, et al. Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2a and CDK4 mutations. J Natl Cancer Inst 2000; 92:1006-1010.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1006-1010
    • Goldstein, A.M.1    Struewing, J.P.2    Chidambaram, A.3
  • 45
    • 0034463357 scopus 로고    scopus 로고
    • Genetic counseling and testing for germline p16 mutations in two pancreatic cancer-prone families
    • Lynch HAT, Randall EB, Lynch JF, et al. Genetic counseling and testing for germline p16 mutations in two pancreatic cancer-prone families. Gastroenterology 2000; 119:1756-1760.
    • (2000) Gastroenterology , vol.119 , pp. 1756-1760
    • Lynch, H.A.T.1    Randall, E.B.2    Lynch, J.F.3
  • 46
    • 0035552404 scopus 로고    scopus 로고
    • Inherited pancreatic cancer: Surveillance and treatment strategies for affected families
    • Rulyak SJ, Brentnall TA. Inherited pancreatic cancer: Surveillance and treatment strategies for affected families. Pancreatology 2001; 1:477-485.
    • (2001) Pancreatology , vol.1 , pp. 477-485
    • Rulyak, S.J.1    Brentnall, T.A.2
  • 47
    • 4243306553 scopus 로고    scopus 로고
    • Familiäres pankreaskarzinom: Studienkonzept einer nationalen fallsammlung mit früherkennungsprogramm für hochrisikopersonen
    • Gerdes B, Kress R, Rieder H, et al. Familiäres pankreaskarzinom: Studienkonzept einer nationalen fallsammlung mit früherkennungsprogramm für hochrisikopersonen. Zae FQ 2002; 96:253-257.
    • (2002) Zae FQ , vol.96 , pp. 253-257
    • Gerdes, B.1    Kress, R.2    Rieder, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.