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Items: 14


Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K.

Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755.


Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

Goodfellow PJ, Billingsley CC, Lankes HA, Ali S, Cohn DE, Broaddus RJ, Ramirez N, Pritchard CC, Hampel H, Chassen AS, Simmons LV, Schmidt AP, Gao F, Brinton LA, Backes F, Landrum LM, Geller MA, DiSilvestro PA, Pearl ML, Lele SB, Powell MA, Zaino RJ, Mutch D.

J Clin Oncol. 2015 Dec 20;33(36):4301-8. doi: 10.1200/JCO.2015.63.9518. Epub 2015 Nov 9.


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.


Prostate cancer incidence in males with Lynch syndrome.

Haraldsdottir S, Hampel H, Wei L, Wu C, Frankel W, Bekaii-Saab T, de la Chapelle A, Goldberg RM.

Genet Med. 2014 Jul;16(7):553-7. doi: 10.1038/gim.2013.193. Epub 2014 Jan 16.


Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.

Bolin K, Sandling JK, Zickert A, Jönsen A, Sjöwall C, Svenungsson E, Bengtsson AA, Eloranta ML, Rönnblom L, Syvänen AC, Gunnarsson I, Nordmark G.

PLoS One. 2013 Dec 27;8(12):e84450. doi: 10.1371/journal.pone.0084450. eCollection 2013.


Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulation.

Pierce A, Williamson A, Jaworska E, Griffiths JR, Taylor S, Walker M, Aspinall-O'Dea M, Spooncer E, Unwin RD, Poolman T, Ray D, Whetton AD.

PLoS One. 2012;7(6):e38928. doi: 10.1371/journal.pone.0038928. Epub 2012 Jun 22. Erratum in: PLoS One. 2013;8(6). doi:10.1371/annotation/df82a4c0-2909-43a0-8a7f-5bd2ce9ca0bd. O'Dea, Mark Aspinall [corrected to Aspinall-O'Dea, Mark].


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.


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.


An American founder mutation in MLH1.

Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A.

Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30.


Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Limburg PJ, Harmsen WS, Chen HH, Gallinger S, Haile RW, Baron JA, Casey G, Woods MO, Thibodeau SN, Lindor NM.

Clin Gastroenterol Hepatol. 2011 Jun;9(6):497-502. doi: 10.1016/j.cgh.2010.10.021. Epub 2010 Nov 5.


Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.

Sheng X, Zhou HH, Zhou XY, Du X, Zhang TM, Cai SJ, Sheng WQ, Shi DR.

World J Gastroenterol. 2010 Aug 14;16(30):3847-52.


The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO, Younghusband HB, Parfrey PS, Gallinger S, McLaughlin J, Dicks E, Stuckless S, Pollett A, Bapat B, Mrkonjic M, de la Chapelle A, Clendenning M, Thibodeau SN, Simms M, Dohey A, Williams P, Robb D, Searle C, Green JS, Green RC.

Gut. 2010 Oct;59(10):1369-77. doi: 10.1136/gut.2010.208462. Epub 2010 Aug 3.


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.

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