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Items: 1 to 20 of 114

1.

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ.

Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23.

PMID:
22753075
2.

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ.

Mutat Res. 2008 Oct 14;645(1-2):44-55. doi: 10.1016/j.mrfmmm.2008.08.015. Epub 2008 Sep 4.

PMID:
18822302
3.

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

Belvederesi L, Bianchi F, Loretelli C, Gagliardini D, Galizia E, Bracci R, Rosati S, Bearzi I, Viel A, Cellerino R, Porfiri E.

Eur J Hum Genet. 2006 Jul;14(7):853-9. Epub 2006 May 17.

4.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P.

Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.

PMID:
19728162
5.

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.

6.

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.

Yuan ZQ, Gottlieb B, Beitel LK, Wong N, Gordon PH, Wang Q, Puisieux A, Foulkes WD, Trifiro M.

Hum Mutat. 2002 Feb;19(2):108-13.

PMID:
11793469
7.

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR, Lofing J, Bitter GA.

Nucleic Acids Res. 2004 Oct 8;32(18):5321-38. Print 2004.

8.

Comprehensive functional assessment of MLH1 variants of unknown significance.

Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M, Balmaña J, Ramón y Cajal T, Torres A, Brunet J, Blanco I, Plotz G, Lázaro C, Capellá G.

Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12. Erratum in: Hum Mutat. 2013 Jan;34(1):274.

PMID:
22736432
9.

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
10.

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

11.

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D'Urso M, Venuta S, Jiricny J.

Genes Chromosomes Cancer. 2002 Feb;33(2):160-7.

PMID:
11793442
12.

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
13.

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M, Shimodaira H, Andreutti-Zaugg C, Iggo R, Kolodner RD, Ishioka C.

Cancer Res. 2007 May 15;67(10):4595-604.

14.

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM.

Hum Mutat. 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735.

PMID:
18383312
15.

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Küppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert HK, von Knebel Doeberitz M, Pox C; Peter Propping; German HNPCC consortium, Hegemann JH, Royer-Pokora B.

Fam Cancer. 2011 Jun;10(2):273-84. doi: 10.1007/s10689-011-9431-4.

PMID:
21404117
16.

Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.

Fan Y, Chen J, Wang W, Wu P, Zhi W, Xue B, Zhang W, Wang Y.

Biochem Genet. 2012 Feb;50(1-2):84-93. doi: 10.1007/s10528-011-9467-z. Epub 2011 Sep 28.

PMID:
21952876
17.

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
18.

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.

19.

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM.

Fam Cancer. 2011 Dec;10(4):641-7. doi: 10.1007/s10689-011-9461-y.

PMID:
21681552
20.

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.

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