| 1 | MLH1, MSH5, PMS2
|
| Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility
|
| Ji G, Long Y, Zhou Y, Huang C, Gu A, Wang X.
|
| BMC Med. May 17;10:49. doi: 10.1186/1741-7015-10-49. 2012
|
| 2 | PMS2
|
| PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
|
| van Oers JM, Roa S, Werling U, Liu Y, Genschel J, Hou H Jr, Sellers RS, Modrich P, Scharff MD, Edelmann W.
|
| Proc Natl Acad Sci U S A 107(30):13384-9. Epub 2010 Jul 12.PMID: 20624957 2010
|
| 3 | HNPCC4, PMS2
|
| PMS2 involvement in patients suspected of Lynch syndrome.
|
| Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM.
|
| Genes Chromosomes Cancer 48(4):322-9.
2009
|
| 4 | HNPCC2, HNPCC4, MLH1, PMS2
|
| Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
|
| Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.
|
| Int J Colorectal Dis 24(8):885-93. Epub 2009 May 29.PMID: 19479271 2009
|
| 5 | MLH1, MSH2, MSH6, PMS2
|
| Germ-line mutations in mismatch repair genes associated with prostate cancer.
|
| Grindedal EM, Møller P, Eeles R, Stormorken AT, Bowitz-Lothe IM, Landrø SM, Clark N, Kvåle R, Shanley S, Maehle L.
|
| Cancer Epidemiol Biomarkers Prev 18(9):2460-7. Epub 2009 Sep 1.PMID: 19723918 2009
|
| 6 | CMMRD, PMS2
|
| Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
|
| Krger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Grgens H, Boue S, Klble K, Bttner R, Schackert HK.
|
| Eur J Hum Genet 16(1):62-72. Epub 2007 Sep 12. 2008
|
| 7 | PMS2, HNPCC4
|
| A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
| 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.
|
| J Med Genet 45(6):340-345. Epub 2008 Jan 4. 2008
|
| 8 | CMMRD, MLH1, MSH2, MSH6, PMS2
|
| Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
|
| Wimmer K, Etzler J.
|
| Hum Genet 124(2):105-22. Epub 2008 Aug 18. Review. 2008
|
| 9 | APC, BRCA1, BRCA2, CDH1, CDKN2A, MLH1, MSH2, MSH6, PMS2, PRSS1, PTEN, RB1, SPINK1, STK11, TP53
|
| Inherited susceptibility to common cancers.
|
| Foulkes WD.
|
| N Engl J Med 359(20):2143-53. No abstract available.
2008
|
| 10 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
|
| Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
|
| 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.
|
| J Med Genet 44(6):353-62. Epub 2007 Feb 27. 2007
|
| 11 | CMMRD, MLH1, MSH2, MSH6, PMS2
|
| Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
|
| Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN; Rotterdam Initiative on Gastrointestinal Hereditary Tumors.
|
| Cancer 109(11):2349-56.
2007
|
| 12 | CMMRD, PMS2
|
| Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
|
| Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I.
|
| Gastroenterology 132(2):527-30. Epub 2006 Nov 29.
2007
|
| 13 | PMS2, HNPCC4
|
| Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
|
| Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G.
|
| Gastroenterology 128(5):1431-6. 2005
|
| 14 | MSH2, MLH1, MSH6, PMS2, HNPCC1, HNPCC2, HNPCC5, HNPCC4
|
| 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).
|
| 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.
|
| Genes Chromosomes Cancer 44(2):123-38. 2005
|
| 15 | MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
|
| Lynch syndrome genes.
|
| Peltomaki P.
|
| Fam Cancer 4(3):227-32. Review. 2005
|
| 16 | EXO1, PMS2
|
| Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
|
| Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, Scott RJ.
|
| Clin Genet 65(3):215-25. 2004
|
| 17 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
|
| Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
|
| Peltomaki P, Vasen H.
|
| Dis Markers 20(4-5):269-76. Review. 2004
|
| 18 | CMMRD, PMS2, PMS2L1
|
| Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
| De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.
|
| Am J Hum Genet 74(5):954-64. Epub 2004 Apr 7. 2004
|
| 19 | MLH1, MLH3, PMS1, PMS2
|
| The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
|
| Kondo E, Horii A, Fukushige S.
|
| Nucleic Acids Res 29(8):1695-702. 2001
|
| 20 | MLH1, PMS2
|
| The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
| Guerrette S, et al.
|
| J Biol Chem 274(10):6336-41. 1999
|
| 21 | MLH1, MSH6, PMS1, PMS2, MSH2
|
| Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
| Wang Q, et al.
|
| Hum Genet 105(1-2):79-85. 1999
|
| 22 | APC, BRCA1, DPP4, MLH1, MSH2, MSH6, NF1, PMS2, RB1, TP53, VHL, WT1, FAP
|
| Tumour suppressor gene mutations in humans and mice : parallels and contrasts.
|
| Hooper ML.
|
| EMBO J 17(23):6783-9. 1998
|
| 23 | HNPCC1, HNPCC3, HNPCC4, MLH1, MHS2, PMS1, PMS2
|
| Molecular basis of HNPCC: mutations of MMR genes.
|
| Papadopoulos N, Lindblom A.
|
| Hum Mutat 10(2):89-99. 1997
|
| 24 | HNPCC1, HNPCC3, HNPCC4, MLH1, MSH2, PMS1, PMS2
|
| Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
|
| Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R.
|
| Am J Hum Genet 61(2):329-35. 1997
|
| 25 | PMS2, PMS2L8, PMS2L11, PMS2LP1, PMS2LP2, WBS
|
| PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
|
| Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW.
|
| Genomics 45(2):402-6. 1997
|
| 26 | MSH2, MLH1, PMS1, PMS2, HNPCC1, HNPCC2, HNPCC3, HNPCC4
|
| Analysis of mismatch repair genes in hereditary non-polyposis colorectalcancer patients.
|
| Liu B, et al.
|
| Nat Med 2 : 169-174. 1996
|
| 27 | AIMP2, PMS2
|
| Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene.
|
| Nicolaides NC, et al.
|
| Genomics 29 : 329-334. 1995
|
| 28 | APC, MLH1, MHS2, PMS2, FAP
|
| The molecular basis of Turcot's syndrome.
|
| Hamilton SR, et al.
|
| N Engl J Med 332 : 839-847. 1995
|
| 29 | PMS2, PMS2L7, PMS2L8, PMS2LP1, PMS2L10, PMS2LP2, PMS2L11, PMS2L2, PMS2L3, PMS2L4, PMS2L5, PMS2L6, PMS2L7, UPK3B
|
| Genomic organization of the human PMS2 gene family.
|
| Nicolaides NC, Carter KC, Shell BK, Papadopoulos N, Vogelstein B, Kinzler KW.
|
| Genomics 30(2):195-206. 1995
|
| 30 | HNPCC3, HNPCC4, PMS1, PMS2, PMS2L7, PMS2L8, PMS2L3, PMS2LP1, PMS2LP2
|
| Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
|
| Nicolaides NC, et al.
|
| Nature 371 : 75-80. 1994
|
| 31 | PMS2, PMS2L1, PMS2L2, PMS2L3, PMS2L4, PMS2L5
|
| Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes.
|
| Horii A, et al.
|
| Biochem Biophys Res Commun 204 : 1257-1264. 1994
|