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Items: 1 to 20 of 191

1.
2.

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.

Ten Broeke SW, van Bavel TC, Jansen AML, Gómez-García E, Hes FJ, van Hest LP, Letteboer TGW, Olderode-Berends MJW, Ruano D, Spruijt L, Suerink M, Tops CM, van Eijk R, Morreau H, van Wezel T, Nielsen M.

Gastroenterology. 2018 Sep;155(3):844-851. doi: 10.1053/j.gastro.2018.05.020. Epub 2018 Jul 29.

PMID:
29758216
3.

PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor.

Wang WC, Lee YT, Lai YC.

J Ovarian Res. 2017 Mar 27;10(1):22. doi: 10.1186/s13048-017-0317-4.

4.

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM.

Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21.

PMID:
27435373
5.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Vogt J, Wernstedt A, Ripperger T, Pabst B, Zschocke J, Kratz C, Wimmer K.

Eur J Hum Genet. 2016 Nov;24(11):1598-1604. doi: 10.1038/ejhg.2016.75. Epub 2016 Jun 22.

6.

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

Mork ME, Borras E, Taggart MW, Cuddy A, Bannon SA, You YN, Lynch PM, Ramirez PT, Rodriguez-Bigas MA, Vilar E.

Fam Cancer. 2016 Oct;15(4):587-91. doi: 10.1007/s10689-016-9902-8.

7.

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.

PMID:
26320870
8.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M.

Genet Med. 2016 Apr;18(4):405-9. doi: 10.1038/gim.2015.83. Epub 2015 Jun 25. Erratum in: Genet Med. 2016 Jan;18(1):108. Olderode, Maran [corrected to Olderode-Berends, M J W].

PMID:
26110232
9.

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells.

Fukuhara S, Chang I, Mitsui Y, Chiyomaru T, Yamamura S, Majid S, Saini S, Deng G, Gill A, Wong DK, Shiina H, Nonomura N, Lau YF, Dahiya R, Tanaka Y.

Oncotarget. 2015 Jun 30;6(18):16341-51.

10.

PMS2 monoallelic mutation carriers: the known unknown.

Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM.

Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Review.

11.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD.

J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17.

PMID:
25691505
12.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT.

J Clin Oncol. 2015 Feb 1;33(4):319-25. doi: 10.1200/JCO.2014.57.8088. Epub 2014 Dec 15.

PMID:
25512458
13.

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.

PMID:
23837913
14.

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.

15.

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.

PMID:
23012243
16.

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.

17.

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.

18.

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

van der Klift HM, Tops CM, Hes FJ, Devilee P, Wijnen JT.

Hum Mutat. 2012 Jul;33(7):1051-5. doi: 10.1002/humu.22092. Epub 2012 Apr 30.

PMID:
22461402
19.

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.

PMID:
21376568
20.

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

Johannesma PC, van der Klift HM, van Grieken NC, Troost D, Te Riele H, Jacobs MA, Postma TJ, Heideman DA, Tops CM, Wijnen JT, Menko FH.

Clin Genet. 2011 Sep;80(3):243-55. doi: 10.1111/j.1399-0004.2011.01635.x. Epub 2011 Feb 20.

PMID:
21261604

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