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Volumn 2014, Issue , 2014, Pages

Report of a novel mutation in MLH1 gene in a Hispanic family from Puerto Rico fulfilling classic Amsterdam criteria for lynch syndrome

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1;

EID: 84911395400     PISSN: 16876121     EISSN: 1687630X     Source Type: Journal    
DOI: 10.1155/2014/527946     Document Type: Article
Times cited : (7)

References (37)
  • 2
    • 78249250888 scopus 로고    scopus 로고
    • Microsatellite instability among individuals of Hispanic origin with colorectal cancer
    • Gupta S., Ashfaq R., Kapur P., Microsatellite instability among individuals of Hispanic origin with colorectal cancer. Cancer 2010 116 21 4965 4972 10.1002/cncr.25486
    • (2010) Cancer , vol.116 , Issue.21 , pp. 4965-4972
    • Gupta, S.1    Ashfaq, R.2    Kapur, P.3
  • 3
    • 0033864291 scopus 로고    scopus 로고
    • Colon cancer screening
    • Burt R. W., Colon cancer screening. Gastroenterology 2000 119 3 837 853 10.1053/gast.2000.16508
    • (2000) Gastroenterology , vol.119 , Issue.3 , pp. 837-853
    • Burt, R.W.1
  • 4
    • 77955053291 scopus 로고    scopus 로고
    • Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
    • Vasen H. F., Moslein G., Alonso A., Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 2010 9 2 109 115 10.1007/s10689-009-9291-3
    • (2010) Familial Cancer , vol.9 , Issue.2 , pp. 109-115
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 5
    • 0023753017 scopus 로고
    • Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers
    • 2-s2.0-0023753017
    • Cannon-Albright L. A., Skolnick M. H., Bishop D. T., Lee R. G., Burt R. W., Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. The New England Journal of Medicine 1988 319 9 533 537 10.1056/NEJM198809013190902 2-s2.0-0023753017
    • (1988) The New England Journal of Medicine , vol.319 , Issue.9 , pp. 533-537
    • Cannon-Albright, L.A.1    Skolnick, M.H.2    Bishop, D.T.3    Lee, R.G.4    Burt, R.W.5
  • 6
    • 0034644185 scopus 로고    scopus 로고
    • Environmental and heritable factors in the causation of cancer: Analyses of cohorts of twins from Sweden, Denmark, and Finland
    • 2-s2.0-0034644185
    • Lichtenstein P., Holm N. V., Verkasalo P. K., Environmental and heritable factors in the causation of cancer: analyses of cohorts of twins from Sweden, Denmark, and Finland. The New England Journal of Medicine 2000 343 2 78 85 10.1056/NEJM200007133430201 2-s2.0-0034644185
    • (2000) The New England Journal of Medicine , vol.343 , Issue.2 , pp. 78-85
    • Lichtenstein, P.1    Holm, N.V.2    Verkasalo, P.K.3
  • 8
    • 84898774680 scopus 로고    scopus 로고
    • History, genetics, and strategies for cancer prevention in Lynch syndrome
    • Kastrinos F., Stoffel E. M., History, genetics, and strategies for cancer prevention in Lynch syndrome. Clinical Gastroenterology and Hepatology 2014 12 5 715 727 10.1016/j.cgh.2013.06.031
    • (2014) Clinical Gastroenterology and Hepatology , vol.12 , Issue.5 , pp. 715-727
    • Kastrinos, F.1    Stoffel, E.M.2
  • 10
    • 36849041018 scopus 로고    scopus 로고
    • Review article: Detection and management of hereditary non-polyposis colorectal cancer (Lynch syndrome)
    • supplement 2 2-s2.0-36849041018
    • Ramsoekh D., van Leerdam M. E., Wagner A., Kuipers E. J., Review article: detection and management of hereditary non-polyposis colorectal cancer (Lynch syndrome). Alimentary Pharmacology & Therapeutics 2007 26 supplement 2 101 111 10.1111/j.1365-2036.2007.03492.x 2-s2.0-36849041018
    • (2007) Alimentary Pharmacology & Therapeutics , vol.26 , pp. 101-111
    • Ramsoekh, D.1    Van Leerdam, M.E.2    Wagner, A.3    Kuipers, E.J.4
  • 11
    • 0029994719 scopus 로고    scopus 로고
    • The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC)
    • Vasen H. F., Sanders E. A., Taal B. G., The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). International Journal of Cancer 1996 65 4 422 425 10.1002/(SICI)1097-0215(19960208)65:4<422::AID-IJC4>3.0.CO;2-Z
    • (1996) International Journal of Cancer , vol.65 , Issue.4 , pp. 422-425
    • Vasen, H.F.1    Sanders, E.A.2    Taal, B.G.3
  • 12
    • 70350090521 scopus 로고    scopus 로고
    • Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
    • Stoffel E., Mukherjee B., Raymond V. M., Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009 137 5 1621 1627 10.1053/j.gastro.2009.07.039
    • (2009) Gastroenterology , vol.137 , Issue.5 , pp. 1621-1627
    • Stoffel, E.1    Mukherjee, B.2    Raymond, V.M.3
  • 13
    • 73149099151 scopus 로고    scopus 로고
    • Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report
    • 2-s2.0-73149099151
    • Valenzuela C. D., Moore H. G., Huang W. C., Reich E. W., Yee H., Ostrer H., Pachter H. L., Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: case report. World Journal of Surgical Oncology 2009 7, article 94 10.1186/1477-7819-7-94 2-s2.0-73149099151
    • (2009) World Journal of Surgical Oncology , vol.794
    • Valenzuela, C.D.1    Moore, H.G.2    Huang, W.C.3    Reich, E.W.4    Yee, H.5    Ostrer, H.6    Pachter, H.L.7
  • 15
    • 33645526454 scopus 로고    scopus 로고
    • Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer
    • 2-s2.0-33645526454
    • Tanyi M., Olasz J., Lukács G., Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer. World Journal of Gastroenterology 2006 12 8 1192 1197 2-s2.0-33645526454
    • (2006) World Journal of Gastroenterology , vol.12 , Issue.8 , pp. 1192-1197
    • Tanyi, M.1    Olasz, J.2    Lukács, G.3
  • 16
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A., Boland C. R., Terdiman J. P., Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute 2004 96 4 261 268 10.1093/jnci/djh034
    • (2004) Journal of the National Cancer Institute , vol.96 , Issue.4 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 17
    • 84911425609 scopus 로고    scopus 로고
    • Puerto Rico Familial Cancer Registry (PURIFICAR), 2006
    • Puerto Rico Familial Cancer Registry (PURIFICAR), 2006, http://purificar.rcm.upr.edu/index-eng.html
  • 19
    • 84911425074 scopus 로고    scopus 로고
    • Colorectal Cancer - Microsatellite Instability by PCR. Integrated Oncology: LabCorp S pecialty and Testing Group
    • Colorectal Cancer-Microsatellite Instability by PCR. Integrated Oncology: LabCorp S pecialty and Testing Group, https://www.labcorp.com/wps/portal/!ut/p/c1/04-SB8K8xLLM9MSSzPy8xBz9CP0os3h-U2cv30B-IwN-f3MDA88APyM-byN-Q3cfU30-j-zcVP1I-ShznKpczPQjc1LTE5Mr9Quy3RwBwjmZJw!!/dl2/d1/L0lJSklna21BL0lKakFBRXlBQkVSQ0pBISEvWUZOQTFOSTUwLTVGd0EhIS83X081Q0pNUU8yME9PNzAwSVBOMk5LMk8xR0Q2L0NrX19fMTU!/?WCM-PORTLET=PC-7-O5CJMQO20OO700IPN2NK2O1GD6-WCM&WCM-GLOBAL-CONTEXT=/wps/wcm/connect/IntOncologyLib/integratedoncology/home/our+services/oncology+testing/colorectal-cancer-microsatellite-instability-pcr
  • 20
    • 84911410918 scopus 로고    scopus 로고
    • Immunohistochemistry (IHC 2014
    • Immunohistochemistry (IHC), Integrated Oncology: LabCorp Specialty and Testing Group. 2014, https://www.labcorp.com/wps/portal/!ut/p/c1/04-SB8K8xLLM9MSSzPy8xBz9CP0os3h-U2cv30B-IwN-f3MDA88APyM-byN-Q3cfU30-j-zcVP1I-ShznKpczPQjc1LTE5Mr9Quy3RwBwjmZJw!!/dl2/d1/L0lJSklna21BL0lKakFBRXlBQkVSQ0pBISEvWUZOQTFOSTUwLTVGd0EhIS83X081Q0pNUU8yME9PNzAwSVBOMk5LMk8xR0Q2LzlrX19fMjA!/?WCM-PORTLET=PC-7-O5CJMQO20OO700IPN2NK2O1GD6-WCM&WCM-GLOBAL-CONTEXT=/wps/wcm/connect/IntOncologyLib/integratedoncology/home/our+services/oncology+testing/immunohistochemistry
    • Integrated Oncology: LabCorp Specialty and Testing Group
  • 21
    • 84911367183 scopus 로고    scopus 로고
    • Myriad Genetic Laboratories I. COLARIS Technical Specifications, 2013
    • Myriad Genetic Laboratories I,. COLARIS Technical Specifications, 2013
  • 22
    • 0035760845 scopus 로고    scopus 로고
    • Genotype And Phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations
    • 2-s2.0-0035760845
    • Peltomäki P., Gao X., Mecklin J.-P., Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Familial Cancer 2001 1 1 9 15 10.1023/A:1011564720772 2-s2.0-0035760845
    • (2001) Familial Cancer , vol.1 , Issue.1 , pp. 9-15
    • Peltomäki, P.1    Gao, X.2    Mecklin, J.-P.3
  • 23
    • 84860171085 scopus 로고    scopus 로고
    • International Society for Gastrointestinal Hereditary Tumors (InSiGHT 2014
    • International Society for Gastrointestinal Hereditary Tumors (InSiGHT), Colon Cancer gene variant database. 6. 2014, http://insight-group.org/variants/database/
    • Colon Cancer Gene Variant Database. 6
  • 24
    • 33746291060 scopus 로고    scopus 로고
    • Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer
    • Marcos I., Borrego S., Urioste M., Garcia-Valles C., Antinolo G., Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer. The Journal of Pediatrics 2006 148 6 837 839 10.1016/j.jpeds.2006.01.009
    • (2006) The Journal of Pediatrics , vol.148 , Issue.6 , pp. 837-839
    • Marcos, I.1    Borrego, S.2    Urioste, M.3    Garcia-Valles, C.4    Antinolo, G.5
  • 25
    • 33846447858 scopus 로고    scopus 로고
    • Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer
    • 2-s2.0-33846447858
    • Sheng J. Q., Chan T. L., Chan Y. W., Huang J. S., Chen J. G., Zhang M. Z., Guo X. L., Mu H., Chan A. S., Li S. R., Yuen S. T., Leung S. Y., Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. Chinese Journal of Digestive Diseases 2006 7 4 197 205 10.1111/j.1443-9573.2006.00269.x 2-s2.0-33846447858
    • (2006) Chinese Journal of Digestive Diseases , vol.7 , Issue.4 , pp. 197-205
    • Sheng, J.Q.1    Chan, T.L.2    Chan, Y.W.3    Huang, J.S.4    Chen, J.G.5    Zhang, M.Z.6    Guo, X.L.7    Mu, H.8    Chan, A.S.9    Li, S.R.10    Yuen, S.T.11    Leung, S.Y.12
  • 27
    • 66349113849 scopus 로고    scopus 로고
    • Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors
    • 2-s2.0-66349113849
    • Campbell P. T., Curtin K., Ulrich C. M., Samowitz W. S., Bigler J., Velicer C. M., Caan B., Potter J. D., Slattery M. L., Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut 2009 58 5 661 667 10.1136/gut.2007.144220 2-s2.0-66349113849
    • (2009) Gut , vol.58 , Issue.5 , pp. 661-667
    • Campbell, P.T.1    Curtin, K.2    Ulrich, C.M.3    Samowitz, W.S.4    Bigler, J.5    Velicer, C.M.6    Caan, B.7    Potter, J.D.8    Slattery, M.L.9
  • 28
    • 79952298225 scopus 로고    scopus 로고
    • A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer
    • 2-s2.0-79952298225
    • Chen W.-C., Lin S.-C., Lee J.-C., A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer. The Kaohsiung Journal of Medical Sciences 2011 27 2 68 71 10.1016/j.kjms.2010.05.002 2-s2.0-79952298225
    • (2011) The Kaohsiung Journal of Medical Sciences , vol.27 , Issue.2 , pp. 68-71
    • Chen, W.-C.1    Lin, S.-C.2    Lee, J.-C.3
  • 30
    • 77951881770 scopus 로고    scopus 로고
    • Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome
    • Alvarez K., Hurtado C., Hevia M. A., Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome. Diseases of the Colon & Rectum 2010 53 4 450 459 10.1007/DCR.0b013e3181d0c114
    • (2010) Diseases of the Colon & Rectum , vol.53 , Issue.4 , pp. 450-459
    • Alvarez, K.1    Hurtado, C.2    Hevia, M.A.3
  • 31
    • 0036917758 scopus 로고    scopus 로고
    • The founder mutation MSH2 1906 G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
    • Foulkes W. D., Thiffault I., Gruber S. B., The founder mutation MSH2 1906 G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. American Journal of Human Genetics 2002 71 6 1395 1412 10.1086/345075
    • (2002) American Journal of Human Genetics , vol.71 , Issue.6 , pp. 1395-1412
    • Foulkes, W.D.1    Thiffault, I.2    Gruber, S.B.3
  • 32
    • 84855685053 scopus 로고    scopus 로고
    • Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
    • Valentin M. D., da Silva F. C., dos Santos E. M., Lisboa B. G., de Oliveira L. P., Ferreira Fde O., Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Familial Cancer 2011 10 4 641 647 10.1007/s10689-011-9461-y
    • (2011) Familial Cancer , vol.10 , Issue.4 , pp. 641-647
    • Valentin, M.D.1    Da Silva, F.C.2    Dos Santos, E.M.3    Lisboa, B.G.4    De Oliveira, L.P.5    Ferreira Fde, O.6
  • 34
    • 78049372048 scopus 로고    scopus 로고
    • A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression
    • 2-s2.0-78049372048
    • Perera S., Li B., Tsitsikotas S., Ramyar L., Pollett A., Semotiuk K., Bapat B., A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. The Journal of Molecular Diagnostics 2010 12 6 757 764 10.2353/jmoldx.2010.090240 2-s2.0-78049372048
    • (2010) The Journal of Molecular Diagnostics , vol.12 , Issue.6 , pp. 757-764
    • Perera, S.1    Li, B.2    Tsitsikotas, S.3    Ramyar, L.4    Pollett, A.5    Semotiuk, K.6    Bapat, B.7
  • 36
    • 84857688644 scopus 로고    scopus 로고
    • A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
    • Lindor N. M., Guidugli L., Wang X., A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Human Mutation 2012 33 1 8 21
    • (2012) Human Mutation , vol.33 , Issue.1 , pp. 8-21
    • Lindor, N.M.1    Guidugli, L.2    Wang, X.3
  • 37
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
    • 2-s2.0-4544310802
    • Peltomäki P., Vasen H., Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSiGHT mutation database. Disease Markers 2004 20 4-5 269 276 10.1155/2004/305058 2-s2.0-4544310802
    • (2004) Disease Markers , vol.20 , Issue.4-5 , pp. 269-276
    • Peltomäki, P.1    Vasen, H.2


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