| 1 | HNPCC4, PMS2
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| PMS2 involvement in patients suspected of Lynch syndrome.
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| Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM.
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| Genes Chromosomes Cancer 48(4):322-9.
2009
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| 2 | HNPCC2, HNPCC4, MLH1, PMS2
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| Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
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| Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.
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| Int J Colorectal Dis 24(8):885-93. Epub 2009 May 29.PMID: 19479271 2009
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| 3 | PMS2, HNPCC4
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| A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
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| Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A.
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| J Med Genet 45(6):340-345. Epub 2008 Jan 4. 2008
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| 4 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
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| Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
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| Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J.
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| J Med Genet 44(6):353-62. Epub 2007 Feb 27. 2007
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| 5 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?
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| Felton K, Gilchrist D, Andrew S.
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| Clin Genet 71(6):499-500. 2007
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| 6 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Constitutive deficiency in DNA mismatch repair.
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| Felton K, Gilchrist D, Andrew S.
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| Clin Genet 71(6):483-98. 2007
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| 7 | PMS2, HNPCC4
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| Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
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| Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G.
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| Gastroenterology 128(5):1431-6. 2005
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| 8 | MSH2, MLH1, MSH6, PMS2, HNPCC1, HNPCC2, HNPCC5, HNPCC4
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| Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
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| van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R.
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| Genes Chromosomes Cancer 44(2):123-38. 2005
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| 9 | MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
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| Lynch syndrome genes.
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| Peltomaki P.
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| Fam Cancer 4(3):227-32. Review. 2005
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| 10 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
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| Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
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| Peltomaki P, Vasen H.
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| Dis Markers 20(4-5):269-76. Review. 2004
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| 11 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, FAP, MUTYH, MAP
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| An update on the genetics of colorectal cancer.
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| Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I.
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| Hum Mol Genet 13 Spec No 2:R177-85. Review. 2004
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| 12 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Deficient DNA mismatch repair: a common etiologic factor for colon cancer.
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| Peltomaki P.
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| Hum Mol Genet 10(7):735-40. Review. 2001
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| 13 | HNPCC1, HNPCC3, HNPCC4, MLH1, MHS2, PMS1, PMS2
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| Molecular basis of HNPCC: mutations of MMR genes.
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| Papadopoulos N, Lindblom A.
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| Hum Mutat 10(2):89-99. 1997
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| 14 | HNPCC1, HNPCC3, HNPCC4, MLH1, MSH2, PMS1, PMS2
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| Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
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| Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R.
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| Am J Hum Genet 61(2):329-35. 1997
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| 15 | MSH2, MLH1, PMS1, PMS2, HNPCC1, HNPCC2, HNPCC3, HNPCC4
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| Analysis of mismatch repair genes in hereditary non-polyposis colorectalcancer patients.
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| Liu B, et al.
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| Nat Med 2 : 169-174. 1996
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| 16 | HNPCC3, HNPCC4, PMS1, PMS2, PMS2L7, PMS2L8, PMS2L3, PMS2LP1, PMS2LP2
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| Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
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| Nicolaides NC, et al.
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| Nature 371 : 75-80. 1994
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