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Results: 1 to 20 of 98

1.

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.

PMID:
23017166
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

Truninger K, Menigatti M, Luz J, Russell A, Haider R, Gebbers JO, Bannwart F, Yurtsever H, Neuweiler J, Riehle HM, Cattaruzza MS, Heinimann K, Schär P, Jiricny J, Marra G.

Gastroenterology. 2005 May;128(5):1160-71.

PMID:
15887099
[PubMed - indexed for MEDLINE]
3.

Nuclear import of human MLH1, PMS2, and MutLalpha: redundancy is the key.

Leong V, Lorenowicz J, Kozij N, Guarné A.

Mol Carcinog. 2009 Aug;48(8):742-50. doi: 10.1002/mc.20514.

PMID:
19148896
[PubMed - indexed for MEDLINE]
4.

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. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642.

PMID:
19132747
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
19672700
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

Vogelsang M, Comino A, Zupanec N, Hudler P, Komel R.

BMC Cancer. 2009 Oct 28;9:382. doi: 10.1186/1471-2407-9-382.

PMID:
19863800
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel.

Shia J, Tang LH, Vakiani E, Guillem JG, Stadler ZK, Soslow RA, Katabi N, Weiser MR, Paty PB, Temple LK, Nash GM, Wong WD, Offit K, Klimstra DS.

Am J Surg Pathol. 2009 Nov;33(11):1639-45. doi: 10.1097/PAS.0b013e3181b15aa2. Erratum in: Am J Surg Pathol. 2010 Mar;34(3):432.

PMID:
19701074
[PubMed - indexed for MEDLINE]
8.

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Kosinski J, Hinrichsen I, Bujnicki JM, Friedhoff P, Plotz G.

Hum Mutat. 2010 Aug;31(8):975-82. doi: 10.1002/humu.21301.

PMID:
20533529
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mismatch repair genes expression defects & association with clinicopathological characteristics in colorectal carcinoma.

Kaur G, Masoud A, Raihan N, Radzi M, Khamizar W, Kam LS.

Indian J Med Res. 2011 Aug;134:186-92.

PMID:
21911971
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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. 2009 Aug;24(8):885-93. doi: 10.1007/s00384-009-0731-1. Epub 2009 May 29.

PMID:
19479271
[PubMed - indexed for MEDLINE]
11.

An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers.

Goel A, Nagasaka T, Hamelin R, Boland CR.

PLoS One. 2010 Feb 24;5(2):e9393. doi: 10.1371/journal.pone.0009393. Erratum in: PLoS One. 2010;5(3). doi: 10.1371/annotation/572bb6d3-0315-40b1-a6d7-ce818809b5ea.

PMID:
20195377
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
19526325
[PubMed - indexed for MEDLINE]
13.

Epigenetic repression of DNA mismatch repair by inflammation and hypoxia in inflammatory bowel disease-associated colorectal cancer.

Edwards RA, Witherspoon M, Wang K, Afrasiabi K, Pham T, Birnbaumer L, Lipkin SM.

Cancer Res. 2009 Aug 15;69(16):6423-9. doi: 10.1158/0008-5472.CAN-09-1285. Epub 2009 Jul 28.

PMID:
19638594
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Preoperative diagnosis of Lynch syndrome with DNA mismatch repair immunohistochemistry on a diagnostic biopsy.

Warrier SK, Trainer AH, Lynch AC, Mitchell C, Hiscock R, Sawyer S, Boussioutas A, Heriot AG.

Dis Colon Rectum. 2011 Dec;54(12):1480-7. doi: 10.1097/DCR.0b013e318231db1f.

PMID:
22067175
[PubMed - indexed for MEDLINE]
15.

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.

Win AK, Lindor NM, Young JP, Macrae FA, Young GP, Williamson E, Parry S, Goldblatt J, Lipton L, Winship I, Leggett B, Tucker KM, Giles GG, Buchanan DD, Clendenning M, Rosty C, Arnold J, Levine AJ, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Hopper JL, Jenkins MA.

J Natl Cancer Inst. 2012 Sep 19;104(18):1363-72. Epub 2012 Aug 28.

PMID:
22933731
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability.

Much M, Buza N, Hui P.

Hum Pathol. 2014 Mar;45(3):549-55. doi: 10.1016/j.humpath.2013.10.022. Epub 2013 Oct 30.

PMID:
24444463
[PubMed - indexed for MEDLINE]
17.

Interobserver variability in the evaluation of mismatch repair protein immunostaining.

Klarskov L, Ladelund S, Holck S, Roenlund K, Lindebjerg J, Elebro J, Halvarsson B, von Salomé J, Bernstein I, Nilbert M.

Hum Pathol. 2010 Oct;41(10):1387-96. doi: 10.1016/j.humpath.2010.03.003. Epub 2010 Jun 22.

PMID:
20573374
[PubMed - indexed for MEDLINE]
18.

Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation.

Gill S, Lindor NM, Burgart LJ, Smalley R, Leontovich O, French AJ, Goldberg RM, Sargent DJ, Jass JR, Hopper JL, Jenkins MA, Young J, Barker MA, Walsh MD, Ruszkiewicz AR, Thibodeau SN.

Clin Cancer Res. 2005 Sep 15;11(18):6466-71.

PMID:
16166421
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

PMID:
15256438
[PubMed - indexed for MEDLINE]
Free Article
20.

Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.

Shia J, Zhang L, Shike M, Guo M, Stadler Z, Xiong X, Tang LH, Vakiani E, Katabi N, Wang H, Bacares R, Ruggeri J, Boland CR, Ladanyi M, Klimstra DS.

Mod Pathol. 2013 Jan;26(1):131-8. doi: 10.1038/modpathol.2012.138. Epub 2012 Aug 24.

PMID:
22918162
[PubMed - indexed for MEDLINE]
Free PMC Article

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