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Items: 1 to 20 of 113

1.

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.

van Lier MG, Wagner A, van Leerdam ME, Biermann K, Kuipers EJ, Steyerberg EW, Dubbink HJ, Dinjens WN.

J Cell Mol Med. 2010 Jan;14(1-2):181-97. doi: 10.1111/j.1582-4934.2009.00977.x. Epub 2009 Nov 19. Review.

2.

BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines.

Molinari F, Signoroni S, Lampis A, Bertan C, Perrone F, Sala P, Mondini P, Crippa S, Bertario L, Frattini M.

Tumori. 2014 May-Jun;100(3):315-20. doi: 10.1700/1578.17214.

PMID:
25076244
3.

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.

van Lier MG, Leenen CH, Wagner A, Ramsoekh D, Dubbink HJ, van den Ouweland AM, Westenend PJ, de Graaf EJ, Wolters LM, Vrijland WW, Kuipers EJ, van Leerdam ME, Steyerberg EW, Dinjens WN; LIMO Study Group.

J Pathol. 2012 Apr;226(5):764-74. doi: 10.1002/path.3963. Epub 2012 Jan 17.

PMID:
22081473
4.

Simplified identification of Lynch syndrome: a prospective, multicenter study.

Bonnet D, Selves J, Toulas C, Danjoux M, Duffas JP, Portier G, Kirzin S, Ghouti L, Carrère N, Suc B, Alric L, Barange K, Buscail L, Chaubard T, Imani K, Guimbaud R.

Dig Liver Dis. 2012 Jun;44(6):515-22. doi: 10.1016/j.dld.2011.12.020. Epub 2012 Apr 3.

PMID:
22480969
5.

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.

6.

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
7.

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R.

Gut. 2012 Jun;61(6):865-72. doi: 10.1136/gutjnl-2011-300041. Epub 2011 Aug 25.

PMID:
21868491
8.

Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach.

Hartman DJ, Brand RE, Hu H, Bahary N, Dudley B, Chiosea SI, Nikiforova MN, Pai RK.

Hum Pathol. 2013 Nov;44(11):2518-28. doi: 10.1016/j.humpath.2013.06.012. Epub 2013 Sep 10.

PMID:
24034859
9.

Lynch syndrome in Tunisia: first description of clinical features and germline mutations.

Moussa SA, Moussa A, Kourda N, Mezlini A, Abdelli N, Zerimech F, Najjar T, Jilani SB, Porchet N, Ayed FB, Manai M, Buisine MP.

Int J Colorectal Dis. 2011 Apr;26(4):455-67. doi: 10.1007/s00384-010-1129-9. Epub 2011 Feb 11.

PMID:
21311894
10.

Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

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

J Clin Oncol. 2008 Dec 10;26(35):5783-8. doi: 10.1200/JCO.2008.17.5950. Epub 2008 Sep 22.

11.

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

Mas-Moya J, Dudley B, Brand RE, Thull D, Bahary N, Nikiforova MN, Pai RK.

Hum Pathol. 2015 Nov;46(11):1616-25. doi: 10.1016/j.humpath.2015.06.022. Epub 2015 Jul 8.

PMID:
26319271
12.

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
13.

EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients.

Guarinos C, Castillejo A, Barberá VM, Pérez-Carbonell L, Sánchez-Heras AB, Segura A, Guillén-Ponce C, Martínez-Cantó A, Castillejo MI, Egoavil CM, Jover R, Payá A, Alenda C, Soto JL.

J Mol Diagn. 2010 Nov;12(6):765-70. doi: 10.2353/jmoldx.2010.100039. Epub 2010 Sep 23.

14.

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Crépin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP.

Hum Mutat. 2012 Jan;33(1):180-8. doi: 10.1002/humu.21617. Epub 2011 Oct 31.

PMID:
21953887
15.

Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries.

Ryan P, Mulligan AM, Aronson M, Ferguson SE, Bapat B, Semotiuk K, Holter S, Kwon J, Kalloger SE, Gilks CB, Gallinger S, Pollett A, Clarke BA.

Cancer. 2012 Feb 1;118(3):681-8. doi: 10.1002/cncr.26323. Epub 2011 Jun 30.

16.

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
17.

Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation.

Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J.

Fam Cancer. 2010 Jun;9(2):167-72. doi: 10.1007/s10689-009-9302-4.

PMID:
19949877
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.

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, Kuipers EJ, Dooijes D.

Gut. 2008 Nov;57(11):1539-44. doi: 10.1136/gut.2008.156695. Epub 2008 Jul 14.

PMID:
18625694
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