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Items: 1 to 20 of 91

1.

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
2.

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.

3.

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.

PMID:
15942939
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.

PMID:
21618646
5.

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.

PMID:
16472587
6.

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
7.

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.

8.

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.

9.

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S.

Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b.

PMID:
21233718
10.

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2).

Rahner N, Steinke V, Schlegelberger B, Olschwang S, Eisinger F, Hutter P.

Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2009.232. Epub 2010 Jan 27. No abstract available.

11.

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.

PMID:
20205264
12.

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.

13.

Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.

Rahner N, Friedrichs N, Wehner M, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C.

Acta Oncol. 2007;46(6):763-9.

PMID:
17653898
14.

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Cini G, Carnevali I, Quaia M, Chiaravalli AM, Sala P, Giacomini E, Maestro R, Tibiletti MG, Viel A.

Carcinogenesis. 2015 Apr;36(4):452-8. doi: 10.1093/carcin/bgv015. Epub 2015 Mar 5.

PMID:
25742745
15.

Long-range PCR facilitates the identification of PMS2-specific mutations.

Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Senter L, Sotamaa K, de la Chapelle A.

Hum Mutat. 2006 May;27(5):490-5. Erratum in: Hum Mutat. 2006 Nov;27(11):1155.

PMID:
16619239
16.

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

Rahner N, Steinke V, Schlegelberger B, Eisinger F, Hutter P, Olschwang S.

Eur J Hum Genet. 2013 Jan;21(1). doi: 10.1038/ejhg.2012.164. Epub 2012 Aug 15. No abstract available.

17.

Immunochemistry screening for Lynch syndrome in colorectal adenocarcinoma using an initial two antibody panel can replace a four antibody panel.

O'Regan T, Chau K, Tatton M, Smith T, Parry S, Bissett I.

N Z Med J. 2013 Sep 13;126(1382):70-7.

PMID:
24154771
18.

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
19.

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.

20.

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.

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