Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 110

1.

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Baptista M, Fragoso M, Sousa O, Pereira H, Marinho C, Moreira Dias L, Teixeira MR.

Genet Med. 2011 Oct;13(10):895-902. doi: 10.1097/GIM.0b013e31821dd525.

PMID:
21785361
2.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100. Epub 2003 Mar 25.

3.

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium.

J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28.

PMID:
21712435
4.

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP.

Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2.

5.

Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.

Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2010 Apr;53(4):450-9. doi: 10.1007/DCR.0b013e3181d0c114.

PMID:
20305446
6.

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias LM, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans DG, Farrington S, Dunlop MG, Teixeira MR.

Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27.

PMID:
23170986
7.

Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

Tang R, Hsiung C, Wang JY, Lai CH, Chien HT, Chiu LL, Liu CT, Chen HH, Wang HM, Chen SX, Hsieh LL; TCOG HNPCC Consortium.

Clin Genet. 2009 Apr;75(4):334-45. doi: 10.1111/j.1399-0004.2009.01162.x.

PMID:
19419416
8.

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A.

N Engl J Med. 2005 May 5;352(18):1851-60.

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.

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.

Hiljadnikova-Bajro M, Josifovski T, Panovski M, Dimovski AJ.

Croat Med J. 2012 Oct;53(5):496-501.

11.

Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.

Pérez-Cabornero L, Borrás Flores E, Infante Sanz M, Velasco Sampedro E, Acedo Becares A, Lastra Aras E, Cuevas González J, Pineda Riu M, Ramón y Cajal Asensio T, Capellá Munar G, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1546-55. doi: 10.1158/1940-6207.CAPR-11-0227. Epub 2011 Jul 21.

12.

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

Borelli I, Casalis Cavalchini GC, Del Peschio S, Micheletti M, Venesio T, Sarotto I, Allavena A, Delsedime L, Barberis MA, Mandrile G, Berchialla P, Ogliara P, Bracco C, Pasini B.

Fam Cancer. 2014 Sep;13(3):401-13. doi: 10.1007/s10689-014-9726-3.

13.

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.

PMID:
17054581
14.

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G.

Cancer Res. 2010 Oct 1;70(19):7379-91. doi: 10.1158/0008-5472.CAN-10-0570. Epub 2010 Sep 21.

15.

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.

16.

Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

Zahary MN, Kaur G, Abu Hassan MR, Singh H, Naik VR, Ankathil R.

World J Gastroenterol. 2012 Feb 28;18(8):814-20. doi: 10.3748/wjg.v18.i8.814.

17.

Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer.

Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR.

J Clin Oncol. 2007 Nov 20;25(33):5158-64. Epub 2007 Oct 9.

PMID:
17925543
18.

An interstitial deletion at 3p21.3 results in the genetic fusion of MLH1 and ITGA9 in a Lynch syndrome family.

Meyer C, Brieger A, Plotz G, Weber N, Passmann S, Dingermann T, Zeuzem S, Trojan J, Marschalek R.

Clin Cancer Res. 2009 Feb 1;15(3):762-9. doi: 10.1158/1078-0432.CCR-08-1908.

19.

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T.

Cancer Res. 2002 Feb 1;62(3):848-53.

20.

Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Zavodna K, Krivulcik T, Bujalkova MG, Slamka T, Martinicky D, Ilencikova D, Bartosova Z.

BMC Cancer. 2009 Nov 20;9:405. doi: 10.1186/1471-2407-9-405.

Supplemental Content

Support Center