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Volumn 1, Issue 2, 2005, Pages 73-84

Basic concepts for genetic testing in common hereditary colorectal cancer syndromes

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EID: 33847666332     PISSN: 15563790     EISSN: 15563804     Source Type: Journal    
DOI: 10.1007/s11888-005-0003-6     Document Type: Article
Times cited : (3)

References (46)
  • 1
    • 0035672948 scopus 로고    scopus 로고
    • Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members
    • Katballe N, Juul S, Christensen M, et al.: Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members. Br J Surg 2001, 88:1228-1233.
    • (2001) Br J Surg , vol.88 , pp. 1228-1233
    • Katballe, N.1    Juul, S.2    Christensen, M.3
  • 2
    • 0034950515 scopus 로고    scopus 로고
    • Medical position statement: Hereditary colorectal cancer and genetic testing
    • American Gastroenterological Association: American Gastroenterological Association
    • American Gastroenterological Association: American Gastroenterological Association medical position statement: hereditary colorectal cancer and genetic testing. Gastroenterology 2001, 121:195-197.
    • (2001) Gastroenterology , vol.121 , pp. 195-197
  • 3
    • 0029864134 scopus 로고    scopus 로고
    • Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology: Statement of the American Society of Clinical Oncology
    • American Society of Clinical Oncology: Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. J Clin Oncol 1996, 14:1730-1736.
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1736
  • 4
    • 0034523949 scopus 로고    scopus 로고
    • Joint Test and Technology Transfer Committee Working Group: Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics
    • Joint Test and Technology Transfer Committee Working Group: Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics. Genet Med 2000, 2:362-366.
    • (2000) Genet Med , vol.2 , pp. 362-366
  • 5
    • 0030939329 scopus 로고    scopus 로고
    • Genetic testing for susceptibility to adult-onset cancer: The process and content of informed consent
    • Geller G, Botkin JR, Green MJ, et al.: Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. JAMA 1997, 277:1467-1474.
    • (1997) JAMA , vol.277 , pp. 1467-1474
    • Geller, G.1    Botkin, J.R.2    Green, M.J.3
  • 6
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to nonpolyposisc colorectal cancer
    • Lynch HT, de la Chapelle A: Genetic susceptibility to nonpolyposisc colorectal cancer. J Med Genet 1999, 36:801-818.
    • (1999) J Med Genet , vol.36 , pp. 801-818
    • Lynch, H.T.1    De La Chapelle, A.2
  • 7
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch Syndrome (hereditary nonpolyposis colorectal cancer)
    • Hampel H, Frankel W, Martin E, et al.: Screening for the Lynch Syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005, 352:1851-1860.
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.2    Martin, E.3
  • 8
    • 0029862873 scopus 로고    scopus 로고
    • Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
    • Vasen HFA, Wijnen JT, Menko FH, et al.: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterol 1996, 110:1020-1027.
    • (1996) Gastroenterol , vol.110 , pp. 1020-1027
    • Vasen, H.F.A.1    Wijnen, J.T.2    Menko, F.H.3
  • 9
    • 0032941343 scopus 로고    scopus 로고
    • Cancer risk in mutation carriers of DNA-mismatch-repair genes
    • Aarnio M, Sankila R, Pukkala E, et al.: Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999, 81:214-218.
    • (1999) Int J Cancer , vol.81 , pp. 214-218
    • Aarnio, M.1    Sankila, R.2    Pukkala, E.3
  • 10
    • 0022648252 scopus 로고
    • Clinical features of colorectal carcinoma in cancer family syndrome
    • Mecklin JP, Jarvinen HJ: Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 1986, 29:160-164.
    • (1986) Dis Colon Rectum , vol.29 , pp. 160-164
    • Mecklin, J.P.1    Jarvinen, H.J.2
  • 11
    • 3242670404 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance
    • Hendriks Y, Wagner A, Morreau H, et al.: Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004, 127:17-25.
    • (2004) Gastroenterology , vol.127 , pp. 17-25
    • Hendriks, Y.1    Wagner, A.2    Morreau, H.3
  • 12
    • 0032216468 scopus 로고    scopus 로고
    • Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer
    • Lin KM, Shashidharan M, Thorson AG, et al.: Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 1998, 2:67-71.
    • (1998) J Gastrointest Surg , vol.2 , pp. 67-71
    • Lin, K.M.1    Shashidharan, M.2    Thorson, A.G.3
  • 13
    • 0035162347 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer in 95 families: Differences and similarities between mutation- positive and mutation-negative kindreds
    • Scott RJ, McPhillips M, Meldrum CJ, and the Hunter Family Cancer Service: Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation- positive and mutation-negative kindreds. Am J Hum Genet 2001, 68:118-127.
    • (2001) Am J Hum Genet , vol.68 , pp. 118-127
    • Scott, R.J.1    McPhillips, M.2    Meldrum, C.J.3
  • 14
    • 0034897120 scopus 로고    scopus 로고
    • The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer
    • Watson P, Butzoz R, Lynch HT, and the International Collaborative Group on HNPCC: The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2001, 82:223-228.
    • (2001) Gynecol Oncol , vol.82 , pp. 223-228
    • Watson, P.1    Butzoz, R.2    Lynch, H.T.3
  • 15
    • 0035054387 scopus 로고    scopus 로고
    • Deficient DNA mismatch repair: A common etiologic factor for colon cancer
    • Peltomaki P: Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Molec Genet 2001, 10:735-740.
    • (2001) Hum Molec Genet , vol.10 , pp. 735-740
    • Peltomaki, P.1
  • 16
    • 0031278322 scopus 로고    scopus 로고
    • Germ line mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
    • Miyaki M, Konishi M, Tanaka K, et al.: Germ line mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997, 17:271-272.
    • (1997) Nat Genet , vol.17 , pp. 271-272
    • Miyaki, M.1    Konishi, M.2    Tanaka, K.3
  • 17
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC
    • Vasen HFA, Watson P, Mecklinn JP, Lynch HT, and the ICGHNPCC: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Hfa, V.1    Watson, P.2    Mecklinn, J.P.3    Lynch, H.T.4
  • 18
    • 20244386256 scopus 로고    scopus 로고
    • Lower cancer incidence in Amsterdam 1 criteria families without mismatch repair deficiency familial colorectal cancer type X
    • Lindor N, Rabe K, Petersen G, et al.: Lower cancer incidence in Amsterdam 1 criteria families without mismatch repair deficiency familial colorectal cancer type X. JAMA 2005, 293:1979-1985.
    • (2005) JAMA , vol.293 , pp. 1979-1985
    • Lindor, N.1    Rabe, K.2    Petersen, G.3
  • 19
    • 28144453808 scopus 로고    scopus 로고
    • HNPCC- clinical and molecular evidence for a new entity of hereditary colorectal cancer
    • in press
    • Muller-Koch Y, Vogelsang H, Kopp R, et al.: HNPCC- clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut 2005, in press.
    • (2005) Gut
    • Muller-Koch, Y.1    Vogelsang, H.2    Kopp, R.3
  • 20
    • 19044363122 scopus 로고    scopus 로고
    • Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer
    • Worthley D, Walsh M, Barker M, et al.: Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology 2005, 128:1431-1436.
    • (2005) Gastroenterology , vol.128 , pp. 1431-1436
    • Worthley, D.1    Walsh, M.2    Barker, M.3
  • 21
    • 0038493613 scopus 로고    scopus 로고
    • Little evidence of MLH3 in colorectal cancer predisposition
    • Hienonen T, Laidho P, Salovaara R, et al.: Little evidence of MLH3 in colorectal cancer predisposition. Int J Cancer 2003, 106:292-296.
    • (2003) Int J Cancer , vol.106 , pp. 292-296
    • Hienonen, T.1    Laidho, P.2    Salovaara, R.3
  • 22
    • 0033825587 scopus 로고    scopus 로고
    • Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
    • Syngal S, Fox EA, Eng C, et al.: Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 2000, 37:641-645.
    • (2000) J Med Genet , vol.37 , pp. 641-645
    • Syngal, S.1    Fox, E.A.2    Eng, C.3
  • 24
    • 11144279281 scopus 로고    scopus 로고
    • Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
    • Shia J, Klimstra D, Nafa K, et al.: Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol 2005, 29:96-104.
    • (2005) Am J Surg Pathol , vol.29 , pp. 96-104
    • Shia, J.1    Klimstra, D.2    Nafa, K.3
  • 25
    • 3943068764 scopus 로고    scopus 로고
    • Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary nonpolyposis colorectal cancer
    • Caldes T, Godino J, Sanchez A, et al.: Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary nonpolyposis colorectal cancer. Oncol Rep 2004, 12:621-629.
    • (2004) Oncol Rep , vol.12 , pp. 621-629
    • Caldes, T.1    Godino, J.2    Sanchez, A.3
  • 26
    • 20244386395 scopus 로고    scopus 로고
    • Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
    • Pinol V, Castells A, Andreu M, et al.: Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005, 293:1986-1994.
    • (2005) JAMA , vol.293 , pp. 1986-1994
    • Pinol, V.1    Castells, A.2    Andreu, M.3
  • 27
    • 13844251880 scopus 로고    scopus 로고
    • Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
    • Casey G, Lindor N, Papdopoulos N, et al.: Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 293:799-809.
    • JAMA , vol.293 , pp. 799-809
    • Casey, G.1    Lindor, N.2    Papdopoulos, N.3
  • 28
    • 84873339534 scopus 로고    scopus 로고
    • Myriad Genetic Laboratories
    • Myriad Genetic Laboratories. http://myriadtests.com
  • 29
    • 0027434872 scopus 로고
    • Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis
    • Evans DG, Guy SP, Thakker N, et al.: Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis. Gut 1993, 34:1389-1393.
    • (1993) Gut , vol.34 , pp. 1389-1393
    • Evans, D.G.1    Guy, S.P.2    Thakker, N.3
  • 30
    • 78651052934 scopus 로고
    • Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis
    • Gardner EJ, Richards RC: Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953, 5:139-147.
    • (1953) Am J Hum Genet , vol.5 , pp. 139-147
    • Gardner, E.J.1    Richards, R.C.2
  • 31
    • 0035173781 scopus 로고    scopus 로고
    • Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes
    • Houlston R, Crabtree M, Phillips R, Tomlinson I: Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 2001, 48:1-5.
    • (2001) Gut , vol.48 , pp. 1-5
    • Houlston, R.1    Crabtree, M.2    Phillips, R.3    Tomlinson, I.4
  • 32
    • 0036141958 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis: An evolving and poorly understood entity
    • Hernegger GS, Moore HG, Guillem JG: Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002, 45:127-136.
    • (2002) Dis Colon Rectum , vol.45 , pp. 127-136
    • Hernegger, G.S.1    Moore, H.G.2    Guillem, J.G.3
  • 33
    • 0022351009 scopus 로고
    • Small 'flat adenoma' of the large bowel with special reference to its clinicopathologic features
    • Muto T, Kamiya J, Sawada T, et al.: Small 'flat adenoma' of the large bowel with special reference to its clinicopathologic features. Dis Colon Rectum 1985, 28:847-851.
    • (1985) Dis Colon Rectum , vol.28 , pp. 847-851
    • Muto, T.1    Kamiya, J.2    Sawada, T.3
  • 34
    • 0027724691 scopus 로고
    • Alleles of the APC gene: An attenuated form of familial polyposis
    • Spiroio L, Olschwang S, Groden J, et al.: Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993, 75:951-957.
    • (1993) Cell , vol.75 , pp. 951-957
    • Spiroio, L.1    Olschwang, S.2    Groden, J.3
  • 35
    • 0034703393 scopus 로고    scopus 로고
    • Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
    • Lamlum H, Al Tassan N, Jaeger E, et al.: Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum Mol Genet 2000, 9:2215-2221.
    • (2000) Hum Mol Genet , vol.9 , pp. 2215-2221
    • Lamlum, H.1    Al Tassan, N.2    Jaeger, E.3
  • 36
    • 0033636833 scopus 로고    scopus 로고
    • Familial adenomatous polyposis and benign intracranial tumors: A new variant of Gardner's syndrome
    • Leblanc R: Familial adenomatous polyposis and benign intracranial tumors: a new variant of Gardner's syndrome. Can J Neurol Sci 2000, 27:341-346.
    • (2000) Can J Neurol Sci , vol.27 , pp. 341-346
    • Leblanc, R.1
  • 37
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
    • Bisgaard ML, Fenger K, Bulow S, et al.: Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994, 3:121-125.
    • (1994) Hum Mutat , vol.3 , pp. 121-125
    • Bisgaard, M.L.1    Fenger, K.2    Bulow, S.3
  • 38
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
    • Al-Tassan N, Chmiel NH, Maynard J, et al.: Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 2002, 30:227-232.
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 40
    • 18344367618 scopus 로고    scopus 로고
    • Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or 'multiple' colorectal adenomas
    • Sieber OM, Lamlum H, Crabtree MD, et al.: Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or 'multiple' colorectal adenomas. Proc Natl Acad Sci U S A 2002, 99:2954-2958.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 2954-2958
    • Sieber, O.M.1    Lamlum, H.2    Crabtree, M.D.3
  • 41
    • 0033515008 scopus 로고    scopus 로고
    • Analysis of masked mutations in familial adenomatous polyposis
    • Laken SJ, Papadopoulos N, Petersen GM, et al.: Analysis of masked mutations in familial adenomatous polyposis. Proc Natl Acad Sci U S A 1999, 96:2322-2326.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2322-2326
    • Laken, S.J.1    Papadopoulos, N.2    Petersen, G.M.3
  • 42
    • 0038799736 scopus 로고    scopus 로고
    • Oxidative DNA damage: Mechanisms, mutation, and disease
    • Cooke MS, Evans MD, Dizdaroglu M, Lunec J: Oxidative DNA damage: mechanisms, mutation, and disease. Faseb J 2003, 17:1195-1214.
    • (2003) Faseb J , vol.17 , pp. 1195-1214
    • Cooke, M.S.1    Evans, M.D.2    Dizdaroglu, M.3    Lunec, J.4
  • 43
    • 0041423452 scopus 로고    scopus 로고
    • Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
    • Enholm S, Hienonen T, Suomalainen A, et al.: Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003, 163:827-832.
    • (2003) Am J Pathol , vol.163 , pp. 827-832
    • Enholm, S.1    Hienonen, T.2    Suomalainen, A.3
  • 44
    • 0037408432 scopus 로고    scopus 로고
    • Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers
    • Halford SE, Rowan AJ, Lipton L, et al.: Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003, 162:1545-1548.
    • (2003) Am J Pathol , vol.162 , pp. 1545-1548
    • Halford, S.E.1    Rowan, A.J.2    Lipton, L.3
  • 45
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • Sampson JR, Dolwani S, Jones S, et al.: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003, 362:39-41.
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 46
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber OM, Lipton L, Crabtree M, et al.: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003, 348:791-799.
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3


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