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MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.

Brammer DW, Gillespie PJ, Tian M, Young D, Raveendran M, Williams LE, Gagea M, Benavides FJ, Perez CJ, Broaddus RR, Bernacky BJ, Barnhart KF, Alauddin MM, Bhutani MS, Gibbs RA, Sidman RL, Pasqualini R, Arap W, Rogers J, Abee CR, Gelovani JG.

Proc Natl Acad Sci U S A. 2018 Mar 13;115(11):2806-2811. doi: 10.1073/pnas.1722106115. Epub 2018 Feb 28.


Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ, Chan TL, Chan YW, Huang JS, Chen JG, Zhang MZ, Guo XL, Mu H, Chan AS, Li SR, Yuen ST, Leung SY.

Chin J Dig Dis. 2006;7(4):197-205.


Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD.

Cancer Res. 2009 Sep 1;69(17):7053-61. doi: 10.1158/0008-5472.CAN-09-0358. Epub 2009 Aug 18.


The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.

Lawes DA, Pearson T, Sengupta S, Boulos PB.

Br J Cancer. 2005 Aug 22;93(4):472-7.


Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.

Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, Kolodner RD, Fox E.

Cancer Res. 2002 Jun 15;62(12):3485-92.


A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.

Pandey AS, Shrestha S.

Indian J Cancer. 2018 Oct-Dec;55(4):410-412. doi: 10.4103/ijc.IJC_349_18.


Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.


Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

Berginc G, Bracko M, Ravnik-Glavac M, Glavac D.

Fam Cancer. 2009;8(4):421-9. doi: 10.1007/s10689-009-9258-4. Epub 2009 Jun 13.


Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

van Puijenbroek M, Middeldorp A, Tops CM, van Eijk R, van der Klift HM, Vasen HF, Wijnen JT, Hes FJ, Oosting J, van Wezel T, Morreau H.

Fam Cancer. 2008;7(4):319-30. doi: 10.1007/s10689-008-9194-8. Epub 2008 Apr 15.


High-level microsatellite instability in appendiceal carcinomas.

Taggart MW, Galbincea J, Mansfield PF, Fournier KF, Royal RE, Overman MJ, Rashid A, Abraham SC.

Am J Surg Pathol. 2013 Aug;37(8):1192-200. doi: 10.1097/PAS.0b013e318282649b.


Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: genetic reclassification and correlation with clinical features.

Schiemann U, Müller-Koch Y, Gross M, Daum J, Lohse P, Baretton G, Muders M, Mussack T, Kopp R, Holinski-Feder E.

Digestion. 2004;69(3):166-76. Epub 2004 Apr 28.


Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.

Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Cancer. 2015 May 1;121(9):1395-404. doi: 10.1002/cncr.29190. Epub 2014 Dec 29.


Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer.

Bapat BV, Madlensky L, Temple LK, Hiruki T, Redston M, Baron DL, Xia L, Marcus VA, Soravia C, Mitri A, Shen W, Gryfe R, Berk T, Chodirker BN, Cohen Z, Gallinger S.

Hum Genet. 1999 Feb;104(2):167-76.


Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M.

Virchows Arch. 2004 Feb;444(2):135-41. Epub 2003 Dec 2.


Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.

Urso E, Agostini M, Pucciarelli S, Rugge M, Bertorelle R, Maretto I, Bedin C, D'Angelo E, Mescoli C, Zorzi M, Viel A, Bruttocao G, Ferraro B, Erroi F, Contin P, De Salvo GL, Nitti D.

Tumour Biol. 2012 Jun;33(3):857-64. doi: 10.1007/s13277-011-0312-0. Epub 2012 Jan 26.


Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A.

Cancer Res. 2006 Aug 1;66(15):7810-7.


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.


Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report.

Gohda Y, Noguchi R, Horie T, Igari T, Nakamura H, Ohta Y, Yamaguchi K, Ikenoue T, Hatakeyama S, Yusa N, Furukawa Y, Yano H.

BMC Med Genet. 2016 Dec 9;17(1):94.


Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

JAMA. 2005 Apr 27;293(16):1986-94.


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