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Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Clendenning M, Walsh MD, Gelpi JB, Thibodeau SN, Lindor N, Potter JD, Newcomb P, LeMarchand L, Haile R, Gallinger S; Colorectal Cancer Family Registry, Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD.

Fam Cancer. 2013 Sep;12(3):563-6. doi: 10.1007/s10689-012-9597-4.


Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.

Vaughn CP, Hart KJ, Samowitz WS, Swensen JJ.

Hum Mutat. 2011 Sep;32(9):1063-71. doi: 10.1002/humu.21540.


The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

Vaughn CP, Baker CL, Samowitz WS, Swensen JJ.

Genes Chromosomes Cancer. 2013 Jan;52(1):107-12. doi: 10.1002/gcc.22011. Epub 2012 Sep 25.


High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Brea-Fernández AJ, Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C.

Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28.


Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS.

Hum Mutat. 2010 May;31(5):588-93. doi: 10.1002/humu.21230.


Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.

Lindsay H, Jubran RF, Wang L, Kipp BR, May WA.

J Pediatr. 2013 Aug;163(2):601-3. doi: 10.1016/j.jpeds.2013.03.007. Epub 2013 Apr 10.


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, Möslein G, Fodde R.

Genes Chromosomes Cancer. 2005 Oct;44(2):123-38.


Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Wernstedt A, Valtorta E, Armelao F, Togni R, Girlando S, Baudis M, Heinimann K, Messiaen L, Staehli N, Zschocke J, Marra G, Wimmer K.

Genes Chromosomes Cancer. 2012 Sep;51(9):819-31. doi: 10.1002/gcc.21966. Epub 2012 May 14.


Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

Zighelboim I, Powell MA, Babb SA, Whelan AJ, Schmidt AP, Clendenning M, Senter L, Thibodeau SN, de la Chapelle A, Goodfellow PJ.

Fam Cancer. 2009;8(4):501-4. doi: 10.1007/s10689-009-9276-2. Epub 2009 Aug 12.


The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A.

Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2.


Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Bröcker-Vriends AH, Vasen HF, Wijnen JT.

Gastroenterology. 2006 Feb;130(2):312-22.


A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ.

J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx.2015.04.001.


Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT.

Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229.


Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.

Clendenning M, Macrae FA, Walsh MD, Walters RJ, Thibodeau SN, Gunawardena SR, Potter JD, Haile RW, Gallinger S; Colorectal Cancer Family Registry, Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD.

Clin Genet. 2013 Jun;83(6):591-3. doi: 10.1111/cge.12011. Epub 2012 Sep 27. No abstract available.


Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A.

Cancer Res. 2004 Jul 15;64(14):4721-7.


Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH.

Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4. Review.


PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

Wimmer K, Wernstedt A.

Methods Mol Biol. 2014;1167:289-302. doi: 10.1007/978-1-4939-0835-6_20.


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. 2007 Feb;132(2):527-30. Epub 2006 Nov 29.


Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.

Schafmayer C, Buch S, Egberts JH, Franke A, Brosch M, El Sharawy A, Conring M, Koschnick M, Schwiedernoch S, Katalinic A, Kremer B, Fölsch UR, Krawczak M, Fändrich F, Schreiber S, Tepel J, Hampe J.

Int J Cancer. 2007 Aug 1;121(3):555-8.


Recurrent and founder mutations in the PMS2 gene.

Tomsic J, Senter L, Liyanarachchi S, Clendenning M, Vaughn CP, Jenkins MA, Hopper JL, Young J, Samowitz W, de la Chapelle A.

Clin Genet. 2013 Mar;83(3):238-43. doi: 10.1111/j.1399-0004.2012.01898.x. Epub 2012 Jun 4.

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