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Items: 1 to 20 of 105

1.

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.

2.

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
3.

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
4.

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.

PMID:
24802709
5.

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
6.

Analysis of mismatch repair gene mutations in Turkish HNPCC patients.

Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP.

Fam Cancer. 2010 Sep;9(3):365-76. doi: 10.1007/s10689-010-9336-7.

PMID:
20373145
7.

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT, Packham D, Lipton L, Boland CR, Ward RL, Hitchins MP.

Int J Cancer. 2011 Feb 15;128(4):869-78. doi: 10.1002/ijc.25422.

8.

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.

9.

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
10.

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D.

Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16.

PMID:
25060679
11.

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK.

J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13.

PMID:
15483016
12.

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
13.

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
14.

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

Caldes T, Godino J, de la Hoya M, Garcia Carbonero I, Perez Segura P, Eng C, Benito M, Diaz-Rubio E.

Int J Cancer. 2002 Apr 10;98(5):774-9.

15.

Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.

Therkildsen C, Isinger-Ekstrand A, Ladelund S, Nissen A, Rambech E, Bernstein I, Nilbert M.

Fam Cancer. 2012 Dec;11(4):579-85. doi: 10.1007/s10689-012-9552-4.

PMID:
22864660
16.

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
17.

Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

Hesson LB, Packham D, Kwok CT, Nunez AC, Ng B, Schmidt C, Fields M, Wong JW, Sloane MA, Ward RL.

Hum Mutat. 2015 Jun;36(6):622-30. doi: 10.1002/humu.22785. Epub 2015 Apr 17.

18.

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M.

Gastroenterology. 2005 Aug;129(2):537-49.

PMID:
16083711
19.

Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome.

Stoffel E, Mukherjee B, Raymond VM, Tayob N, Kastrinos F, Sparr J, Wang F, Bandipalliam P, Syngal S, Gruber SB.

Gastroenterology. 2009 Nov;137(5):1621-7. doi: 10.1053/j.gastro.2009.07.039. Epub 2009 Jul 18.

20.

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

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