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Volumn 12, Issue SUPPL. 1, 2007, Pages

Hereditary cancer syndromes

Author keywords

BRCA; FAP; Hereditary cancer syndromes; HNPCC

Indexed keywords

APC PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CELECOXIB; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; TAMOXIFEN;

EID: 36749031683     PISSN: 11070625     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (18)

References (45)
  • 2
    • 0033516320 scopus 로고    scopus 로고
    • Colorectal cancer: Molecules and populations
    • Potter JD. Colorectal cancer: molecules and populations. J Natl Cancer Inst 1999; 91: 916-932.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 916-932
    • Potter, J.D.1
  • 3
    • 0028826709 scopus 로고
    • Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
    • Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995; 57: 1457-1462.
    • (1995) Am J Hum Genet , vol.57 , pp. 1457-1462
    • Ford, D.1    Easton, D.F.2    Peto, J.3
  • 4
    • 4944240144 scopus 로고    scopus 로고
    • Genetic predisposition to colorectal cancer
    • de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004; 4: 769-780.
    • (2004) Nat Rev Cancer , vol.4 , pp. 769-780
    • de la Chapelle, A.1
  • 5
    • 9744279707 scopus 로고    scopus 로고
    • Hereditary cancer: Guidelines in clinical practice. colorectal cancer genetics
    • Jarvinen HJ. Hereditary cancer: guidelines in clinical practice. colorectal cancer genetics. Ann Oncol 2004; 15 (Suppl 4): iv127-131.
    • (2004) Ann Oncol , vol.15 , Issue.SUPPL. 4
    • Jarvinen, H.J.1
  • 6
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
    • Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004; 20: 269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 7
    • 14644396669 scopus 로고    scopus 로고
    • Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium
    • Plaschke J, Engel C, Kruger S et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 2004; 22: 4486-4494.
    • (2004) J Clin Oncol , vol.22 , pp. 4486-4494
    • Plaschke, J.1    Engel, C.2    Kruger, S.3
  • 8
    • 33748565629 scopus 로고    scopus 로고
    • MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease
    • Pinto C, Veiga I, Pinheiro M et al. MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease. Br J Cancer 2006; 95: 752-756.
    • (2006) Br J Cancer , vol.95 , pp. 752-756
    • Pinto, C.1    Veiga, I.2    Pinheiro, M.3
  • 9
    • 33745658837 scopus 로고    scopus 로고
    • Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
    • Barnetson RA, Tenesa A, Farrington SM et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006; 354: 2751-2763.
    • (2006) N Engl J Med , vol.354 , pp. 2751-2763
    • Barnetson, R.A.1    Tenesa, A.2    Farrington, S.M.3
  • 10
    • 20544437157 scopus 로고    scopus 로고
    • BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes
    • Domingo E, Niessen RC, Oliveira C et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 2005; 24: 3995-3998.
    • (2005) Oncogene , vol.24 , pp. 3995-3998
    • Domingo, E.1    Niessen, R.C.2    Oliveira, C.3
  • 11
    • 4444311092 scopus 로고    scopus 로고
    • BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
    • Domingo E, Laiho P, Ollikamen M et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004: 41: 664-668.
    • (2004) J Med Genet , vol.41 , pp. 664-668
    • Domingo, E.1    Laiho, P.2    Ollikamen, M.3
  • 12
    • 33749073433 scopus 로고    scopus 로고
    • Predicting and preventing hereditary colorectal cancer
    • Ford JM, Whittemore AS. Predicting and preventing hereditary colorectal cancer. JAMA 2006; 296: 1521-1523.
    • (2006) JAMA , vol.296 , pp. 1521-1523
    • Ford, J.M.1    Whittemore, A.S.2
  • 13
    • 33749040947 scopus 로고    scopus 로고
    • Prediction of MLH1 and MSH2 mutations in Lynch syndrome
    • Balmana J, Stockwell DH, Steyerberg EW et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006; 296: 1469-1478.
    • (2006) JAMA , vol.296 , pp. 1469-1478
    • Balmana, J.1    Stockwell, D.H.2    Steyerberg, E.W.3
  • 14
    • 33749066191 scopus 로고    scopus 로고
    • Prediction of germline mutations and cancer risk in the Lynch syndrome
    • Chen S, Wang W, Shing L et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006; 296: 1479-1487.
    • (2006) JAMA , vol.296 , pp. 1479-1487
    • Chen, S.1    Wang, W.2    Shing, L.3
  • 15
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • Kinzler KW, Nilbert MC, Su LK et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661-665.
    • (1991) Science , vol.253 , pp. 661-665
    • Kinzler, K.W.1    Nilbert, M.C.2    Su, L.K.3
  • 17
    • 0025899162 scopus 로고
    • Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
    • Nishisho I, Nakamura Y, Miyoshi Y et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253: 665-669.
    • (1991) Science , vol.253 , pp. 665-669
    • Nishisho, I.1    Nakamura, Y.2    Miyoshi, Y.3
  • 19
    • 0033983817 scopus 로고    scopus 로고
    • APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
    • Ficari F, Cama A, Valanzano R et al. APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Br J Cancer 2000; 82: 348-353.
    • (2000) Br J Cancer , vol.82 , pp. 348-353
    • Ficari, F.1    Cama, A.2    Valanzano, R.3
  • 20
    • 0141961837 scopus 로고    scopus 로고
    • Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma
    • Truta B, Allen BA, Conrad PG et al. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer 2003; 2: 95-99.
    • (2003) Fam Cancer , vol.2 , pp. 95-99
    • Truta, B.1    Allen, B.A.2    Conrad, P.G.3
  • 21
    • 0030478208 scopus 로고    scopus 로고
    • Hepatoblastoma and APC gene mutation in familial adenomatous polyposis
    • Giardiello, FM, Petersen GM, Brensinger JD et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut 1996; 39: 867-873.
    • (1996) Gut , vol.39 , pp. 867-873
    • Giardiello, F.M.1    Petersen, G.M.2    Brensinger, J.D.3
  • 22
    • 0025183118 scopus 로고
    • Mortality in patients with familial adenomatous polyposis
    • Arvanitis ML, Jagelman DG, Fazio VW et al. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639-642.
    • (1990) Dis Colon Rectum , vol.33 , pp. 639-642
    • Arvanitis, M.L.1    Jagelman, D.G.2    Fazio, V.W.3
  • 23
    • 31944448351 scopus 로고    scopus 로고
    • Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts
    • Bisgaard ML, Bulow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet 2006; 140: 200-204.
    • (2006) Am J Med Genet , vol.140 , pp. 200-204
    • Bisgaard, M.L.1    Bulow, S.2
  • 24
    • 33846896438 scopus 로고    scopus 로고
    • Brain tumors in individuals with familial adenomatous polyposis: A cancer registry experience and pooled case report analysis
    • Attard TM, Giglio P, Koppula S, Snyder C, Lynch HT. Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Cancer 2007; 109: 761-766.
    • (2007) Cancer , vol.109 , pp. 761-766
    • Attard, T.M.1    Giglio, P.2    Koppula, S.3    Snyder, C.4    Lynch, H.T.5
  • 25
    • 0141635232 scopus 로고    scopus 로고
    • Solitary congenital hypertrophy of the retinal pigment epithelium: Clinical features and frequency of enlargement in 330 patients
    • Shields CL, Mashayekhi A, Ho T et al. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology 2003; 110: 1968-1976.
    • (2003) Ophthalmology , vol.110 , pp. 1968-1976
    • Shields, C.L.1    Mashayekhi, A.2    Ho, T.3
  • 26
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP
    • Lynch HT, Smyrk T, McGinn T et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer 1995; 76: 2427-2433.
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 28
    • 0028905406 scopus 로고
    • Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
    • Caspari R, Olschwang S, Friedl W et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995; 4: 337-340.
    • (1995) Hum Mol Genet , vol.4 , pp. 337-340
    • Caspari, R.1    Olschwang, S.2    Friedl, W.3
  • 29
    • 17744418769 scopus 로고    scopus 로고
    • The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis
    • Steinbach G, Lynch PM, Phillips RK et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000; 342: 1946-1952.
    • (2000) N Engl J Med , vol.342 , pp. 1946-1952
    • Steinbach, G.1    Lynch, P.M.2    Phillips, R.K.3
  • 30
    • 34250325499 scopus 로고    scopus 로고
    • Effectiveness of preventive interventions in BRCA 1/2 gene mutation carriers: A systematic review
    • Bermejo-Perez MJ, Marquez-Calderon S, Llanos-Mendez A. Effectiveness of preventive interventions in BRCA 1/2 gene mutation carriers: A systematic review. Int J Cancer 2007; 121: 225-231.
    • (2007) Int J Cancer , vol.121 , pp. 225-231
    • Bermejo-Perez, M.J.1    Marquez-Calderon, S.2    Llanos-Mendez, A.3
  • 31
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4: 665-676.
    • (2004) Nat Rev Cancer , vol.4 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 32
    • 33644838384 scopus 로고    scopus 로고
    • Optimal selection of individuals for BRCA mutation testing: A comparison of available methods
    • James PA, Doherty R, Harris M et al. Optimal selection of individuals for BRCA mutation testing: A comparison of available methods. J Clin Oncol 2006; 24: 707-715.
    • (2006) J Clin Oncol , vol.24 , pp. 707-715
    • James, P.A.1    Doherty, R.2    Harris, M.3
  • 33
    • 0037685164 scopus 로고    scopus 로고
    • Breast and ovarian cancer
    • Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med 2003; 348: 2339-2347.
    • (2003) N Engl J Med , vol.348 , pp. 2339-2347
    • Wooster, R.1    Weber, B.L.2
  • 34
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • Chen S, Parmigianni G. Meta-analysis of BRCA1 and BRCA2 penetrance, J Clin Oncol 2007; 25: 1329-1333.
    • (2007) J Clin Oncol , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigianni, G.2
  • 35
    • 33846850422 scopus 로고    scopus 로고
    • Ten genes for inherited breast cancer
    • Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell 2007; 11: 103-105.
    • (2007) Cancer Cell , vol.11 , pp. 103-105
    • Walsh, T.1    King, M.C.2
  • 36
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton DF, Pooley KA, Dunning AM et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087-1093.
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 37
    • 33847337318 scopus 로고    scopus 로고
    • A common coding variant in CASP8 is associated with breast cancer risk
    • Cox A, Dunning AM, Garcia-Closas M et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007; 39: 352-358.
    • (2007) Nat Genet , vol.39 , pp. 352-358
    • Cox, A.1    Dunning, A.M.2    Garcia-Closas, M.3
  • 38
    • 42549140338 scopus 로고    scopus 로고
    • Greek BRCA1 and BRCA2 mutation spectrum: Two BRCA1 mutations account for half the carriers among high-risk breast/ovarian cancer patients
    • Apr 24 [Epub ahead of print
    • Konstantopoulou I, Rampias T, Ladopoulou A et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers among high-risk breast/ovarian cancer patients. Breast Cancer Res Treat 2007; Apr 24 [Epub ahead of print].
    • (2007) Breast Cancer Res Treat
    • Konstantopoulou, I.1    Rampias, T.2    Ladopoulou, A.3
  • 39
    • 33846317838 scopus 로고    scopus 로고
    • Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients
    • Armaou S, Konstantopoulou I, Anagnostopoulos T et al. Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients. Eur J Cancer 2007; 43: 443-453.
    • (2007) Eur J Cancer , vol.43 , pp. 443-453
    • Armaou, S.1    Konstantopoulou, I.2    Anagnostopoulos, T.3
  • 40
    • 0026092912 scopus 로고
    • Genetic analysis of breast cancer in the cancer and steroid hormone study
    • Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991; 48: 232-242.
    • (1991) Am J Hum Genet , vol.48 , pp. 232-242
    • Claus, E.B.1    Risch, N.2    Thompson, W.D.3
  • 41
    • 0027979310 scopus 로고
    • Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction
    • Claus RB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994; 73: 643-651.
    • (1994) Cancer , vol.73 , pp. 643-651
    • Claus, R.B.1    Risch, N.2    Thompson, W.D.3
  • 42
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62: 676-689.
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 43
    • 34247152144 scopus 로고    scopus 로고
    • Evaluation of mathematical models for breast cancer risk assessment in routine clinical use
    • Fasching PA, Bani MR, Nestle-Kramling C et al. Evaluation of mathematical models for breast cancer risk assessment in routine clinical use. Eur J Cancer Prev 2007; 16: 216-224.
    • (2007) Eur J Cancer Prev , vol.16 , pp. 216-224
    • Fasching, P.A.1    Bani, M.R.2    Nestle-Kramling, C.3
  • 44
    • 33744760541 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: Chemosensitivity, treatment, outcomes and prognosis
    • Foulkes WD. BRCA1 and BRCA2: Chemosensitivity, treatment, outcomes and prognosis. Fam Cancer 2006; 5: 135-142.
    • (2006) Fam Cancer , vol.5 , pp. 135-142
    • Foulkes, W.D.1
  • 45
    • 34547110127 scopus 로고    scopus 로고
    • Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status
    • Moller P, Evans DG, Reis MM et al. Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer 2007; 121: 1017-1020.
    • (2007) Int J Cancer , vol.121 , pp. 1017-1020
    • Moller, P.1    Evans, D.G.2    Reis, M.M.3


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