메뉴 건너뛰기




Volumn 116, Issue 1, 2010, Pages 203-209

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma

Author keywords

Cystic fibrosis transmembrane conductance regulator; Disease associated mutation; Molecular epidemiology; Pancreatic neoplasms

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 74549164128     PISSN: 0008543X     EISSN: 10970142     Source Type: Journal    
DOI: 10.1002/cncr.24697     Document Type: Article
Times cited : (89)

References (40)
  • 1
    • 0026768486 scopus 로고
    • Increasing incidence of pancreatic cancer among women in Olmsted County, Minnesota, 1940 through 1988
    • Riela A, Zinsmeister AR, Melton LJ III, et al. Increasing incidence of pancreatic cancer among women in Olmsted County, Minnesota, 1940 through 1988. Mayo Clin Proc. 1992;67:839-845.
    • (1992) Mayo Clin Proc , vol.67 , pp. 839-845
    • Riela, A.1    Zinsmeister, A.R.2    Melton III, L.J.3
  • 3
    • 0037420023 scopus 로고    scopus 로고
    • Familial pancreatic cancer: Where are we in 2003?
    • Petersen GM, Hruban RH. Familial pancreatic cancer: where are we in 2003? J Natl Cancer Inst. 2003;95:180-181.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 180-181
    • Petersen, G.M.1    Hruban, R.H.2
  • 4
    • 0032480253 scopus 로고    scopus 로고
    • Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
    • Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339:645-652.
    • (1998) N Engl J Med , vol.339 , pp. 645-652
    • Sharer, N.1    Schwarz, M.2    Malone, G.3
  • 5
    • 0036892322 scopus 로고    scopus 로고
    • Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
    • Durno C, Corey M, Zielenski J, et al. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Gastroenterology. 2002;123:1857-1864.
    • (2002) Gastroenterology , vol.123 , pp. 1857-1864
    • Durno, C.1    Corey, M.2    Zielenski, J.3
  • 6
    • 0027294719 scopus 로고
    • International Pancreatitis Study Group. Pancreatitis and the risk of pancreatic cancer
    • Lowenfels AB, Maisonneuve P, Cavallini G, et al. International Pancreatitis Study Group. Pancreatitis and the risk of pancreatic cancer. N Engl J Med. 1993;328:1433-1437.
    • (1993) N Engl J Med , vol.328 , pp. 1433-1437
    • Lowenfels, A.B.1    Maisonneuve, P.2    Cavallini, G.3
  • 7
    • 0027984234 scopus 로고
    • Association of pancreatic adenocarcinoma, mild lung disease, and ΔF508 mutation in a cystic fibrosis patient
    • Tsongalis GJ, Faber G, Dalldorf FG, et al. Association of pancreatic adenocarcinoma, mild lung disease, and ΔF508 mutation in a cystic fibrosis patient. Clin Chem. 1994;40:1972-1974.
    • (1994) Clin Chem , vol.40 , pp. 1972-1974
    • Tsongalis, G.J.1    Faber, G.2    Dalldorf, F.G.3
  • 8
    • 0021908735 scopus 로고
    • Adenocarcinoma in cystic fibrosis
    • Davis TM, Sawicka EH. Adenocarcinoma in cystic fibrosis. Thorax. 1985;40:199-200.
    • (1985) Thorax , vol.40 , pp. 199-200
    • Davis, T.M.1    Sawicka, E.H.2
  • 9
    • 45449121463 scopus 로고
    • Pancreatic adenocarcinoma in a patient with cystic fibrosis
    • McIntosh JC, Schoumacher RA, Tiller RE. Pancreatic adenocarcinoma in a patient with cystic fibrosis. Am J Med. 1988;85:592.
    • (1988) Am J Med , vol.85 , pp. 592
    • McIntosh, J.C.1    Schoumacher, R.A.2    Tiller, R.E.3
  • 11
    • 0027448919 scopus 로고
    • A cohort study of cystic fibrosis and malignancy
    • Sheldon CD, Hodson ME, Carpenter LM, et al. A cohort study of cystic fibrosis and malignancy. Br J Cancer. 1993;68:1025-1028.
    • (1993) Br J Cancer , vol.68 , pp. 1025-1028
    • Sheldon, C.D.1    Hodson, M.E.2    Carpenter, L.M.3
  • 12
    • 0028967358 scopus 로고
    • Cystic Fibrosis and Cancer Study Group. The risk of cancer among patients with cystic fibrosis
    • Neglia JP, FitzSimmons SC, Maisonneuve P, et al. Cystic Fibrosis and Cancer Study Group. The risk of cancer among patients with cystic fibrosis. N Engl J Med. 1995;332:494-499.
    • (1995) N Engl J Med , vol.332 , pp. 494-499
    • Neglia, J.P.1    FitzSimmons, S.C.2    Maisonneuve, P.3
  • 13
    • 27444439642 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma
    • McWilliams RR, Highsmith WE, Rabe KG, et al. Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma. Gut. 2005;54:1661-1662.
    • (2005) Gut , vol.54 , pp. 1661-1662
    • McWilliams, R.R.1    Highsmith, W.E.2    Rabe, K.G.3
  • 14
  • 15
    • 33645331588 scopus 로고    scopus 로고
    • A universal array-based multiplexed test for cystic fibrosis carrier screening
    • Amos JA, Bridge-Cook P, Ponek V, et al. A universal array-based multiplexed test for cystic fibrosis carrier screening. Expert Rev Mol Diagn. 2006;6:15-22.
    • (2006) Expert Rev Mol Diagn , vol.6 , pp. 15-22
    • Amos, J.A.1    Bridge-Cook, P.2    Ponek, V.3
  • 16
    • 47049115524 scopus 로고    scopus 로고
    • Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
    • Farrell PM, Rosenstein BJ, White TB, et al. Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153:S4-S14.
    • (2008) J Pediatr , vol.153
    • Farrell, P.M.1    Rosenstein, B.J.2    White, T.B.3
  • 17
    • 33745972087 scopus 로고    scopus 로고
    • Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel
    • Strom CM, Janeszco R, Quan F, et al. Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel. J Mol Diagn. 2006;8:371-375.
    • (2006) J Mol Diagn , vol.8 , pp. 371-375
    • Strom, C.M.1    Janeszco, R.2    Quan, F.3
  • 18
    • 34548149173 scopus 로고    scopus 로고
    • A comparative study of 5 technologically diverse CFTR testing platforms
    • Johnson MA, Yoshitomi MJ, Richards CS. A comparative study of 5 technologically diverse CFTR testing platforms. J Mol Diagn. 2007;9:401-407.
    • (2007) J Mol Diagn , vol.9 , pp. 401-407
    • Johnson, M.A.1    Yoshitomi, M.J.2    Richards, C.S.3
  • 19
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
    • Shoshani T, Augarten A, Gazit E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet. 1992;50:222-228.
    • (1992) Am J Hum Genet , vol.50 , pp. 222-228
    • Shoshani, T.1    Augarten, A.2    Gazit, E.3
  • 20
    • 81355156452 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer
    • Malats N, Casals T, Porta M, et al. Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. Gut. 2001;48:70-74.
    • (2001) Gut , vol.48 , pp. 70-74
    • Malats, N.1    Casals, T.2    Porta, M.3
  • 21
    • 3042583844 scopus 로고    scopus 로고
    • Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer
    • Matsubayashi H, Fukushima N, Sato N, et al. Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. Cancer Biol Ther. 2003;2:652-655.
    • (2003) Cancer Biol Ther , vol.2 , pp. 652-655
    • Matsubayashi, H.1    Fukushima, N.2    Sato, N.3
  • 22
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations: correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations: correlation with incidence data and application to screening. Hum Mutat. 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr, M.2    Fine, J.P.3
  • 23
    • 0032855679 scopus 로고    scopus 로고
    • Early and late onset in idiopathic and alcoholic chronic pancreatitis: Different clinical courses
    • Layer P, DiMagno EP. Early and late onset in idiopathic and alcoholic chronic pancreatitis: different clinical courses. Surg Clin North Am. 1999;79:847-860.
    • (1999) Surg Clin North Am , vol.79 , pp. 847-860
    • Layer, P.1    DiMagno, E.P.2
  • 25
    • 0029040369 scopus 로고
    • Identification of 6 novel CFTR mutations in a sample of Italian cystic fibrosis patients
    • Ferec C, Novelli G, Verlingue C, et al. Identification of 6 novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes. 1995;9:135-137.
    • (1995) Mol Cell Probes , vol.9 , pp. 135-137
    • Ferec, C.1    Novelli, G.2    Verlingue, C.3
  • 26
    • 0344766792 scopus 로고    scopus 로고
    • Exon 10 skipping resulting from the E528E polymorphism [abstract]
    • Cuppens H, Jaspers M, Lin W, et al. Exon 10 skipping resulting from the E528E polymorphism [abstract]. Pediatr Pulmonol. 1998;26:302.
    • (1998) Pediatr Pulmonol , vol.26 , pp. 302
    • Cuppens, H.1    Jaspers, M.2    Lin, W.3
  • 27
    • 21444444302 scopus 로고    scopus 로고
    • A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype
    • Clain J, Lehmann-Che J, Girodon E, et al. A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. Hum Genet. 2005;116:454-460.
    • (2005) Hum Genet , vol.116 , pp. 454-460
    • Clain, J.1    Lehmann-Che, J.2    Girodon, E.3
  • 28
    • 0036180809 scopus 로고    scopus 로고
    • Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis
    • Padoan R, Genoni S, Moretti E, et al. Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis. Acta Paediatr. 2002;91:82-87.
    • (2002) Acta Paediatr , vol.91 , pp. 82-87
    • Padoan, R.1    Genoni, S.2    Moretti, E.3
  • 29
    • 0033624507 scopus 로고    scopus 로고
    • Many DF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation
    • Boyne J, Evans S, Pollitt RJ, et al. Many DF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. J Med Genet. 2000;37:543-547.
    • (2000) J Med Genet , vol.37 , pp. 543-547
    • Boyne, J.1    Evans, S.2    Pollitt, R.J.3
  • 30
    • 4644351639 scopus 로고    scopus 로고
    • Genotypephenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
    • Monaghan KG, Highsmith WE, Amos J, et al. Genotypephenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study. Genet Med. 2004;6:421-425.
    • (2004) Genet Med , vol.6 , pp. 421-425
    • Monaghan, K.G.1    Highsmith, W.E.2    Amos, J.3
  • 31
    • 0034640496 scopus 로고    scopus 로고
    • Suppressive interactions between mutations located in the 2 nucleotide binding domains of CFTR
    • Wei L, Vankeerberghen A, Jaspers M, et al. Suppressive interactions between mutations located in the 2 nucleotide binding domains of CFTR. FEBS Lett. 2000;473:149-153.
    • (2000) FEBS Lett , vol.473 , pp. 149-153
    • Wei, L.1    Vankeerberghen, A.2    Jaspers, M.3
  • 32
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu CS, Trapnell BC, Curristin S, et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993;3:151-156.
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3
  • 33
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475-1480.
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillon, M.1    Casals, T.2    Mercier, B.3
  • 34
    • 30744444177 scopus 로고    scopus 로고
    • The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
    • Bishop MD, Freedman SD, Zielenski J, et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet. 2005;118:372-381.
    • (2005) Hum Genet , vol.118 , pp. 372-381
    • Bishop, M.D.1    Freedman, S.D.2    Zielenski, J.3
  • 35
    • 25444432550 scopus 로고    scopus 로고
    • Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls
    • Weiss FU, Simon P, Bogdanova N, et al. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut. 2005;54:1456-1460.
    • (2005) Gut , vol.54 , pp. 1456-1460
    • Weiss, F.U.1    Simon, P.2    Bogdanova, N.3
  • 36
    • 0032993421 scopus 로고    scopus 로고
    • Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis
    • Gasparini P, Arbustini E, Restagno G, et al. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. J Med Screen. 1999;6:67-69.
    • (1999) J Med Screen , vol.6 , pp. 67-69
    • Gasparini, P.1    Arbustini, E.2    Restagno, G.3
  • 37
    • 33845734111 scopus 로고    scopus 로고
    • CFTR ΔF508 mutation detection from dried blood samples in the first trimester of pregnancy: A possible routine prenatal screening strategy for cystic fibrosis?
    • Konialis CP, Hagnefelt B, Kazamia C, et al. CFTR ΔF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis? Fetal Diagn Ther. 2007;22:41-44.
    • (2007) Fetal Diagn Ther , vol.22 , pp. 41-44
    • Konialis, C.P.1    Hagnefelt, B.2    Kazamia, C.3
  • 38
    • 13444291641 scopus 로고    scopus 로고
    • Implementing prenatal screening for cystic fibrosis in routine obstetric practice
    • Fries MH, Bashford M, Nunes M. Implementing prenatal screening for cystic fibrosis in routine obstetric practice. Am J Obstet Gynecol. 2005;192:527-534.
    • (2005) Am J Obstet Gynecol , vol.192 , pp. 527-534
    • Fries, M.H.1    Bashford, M.2    Nunes, M.3
  • 39
    • 0035282581 scopus 로고    scopus 로고
    • Aberrant CFTR-dependent HCO3 transport in mutations associated with cystic fibrosis
    • Choi JY, Muallem D, Kiselyov K, et al. Aberrant CFTR-dependent HCO3 transport in mutations associated with cystic fibrosis. Nature. 2001;410:94-97.
    • (2001) Nature , vol.410 , pp. 94-97
    • Choi, J.Y.1    Muallem, D.2    Kiselyov, K.3
  • 40
    • 0038298386 scopus 로고    scopus 로고
    • Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas
    • Ahmed N, Corey M, Forstner G, et al. Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas. Gut. 2003;52:1159-1164.
    • (2003) Gut , vol.52 , pp. 1159-1164
    • Ahmed, N.1    Corey, M.2    Forstner, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.