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Items: 1 to 20 of 105

1.

Identification of Lynch syndrome risk variants in the Romanian population.

Iordache PD, Mates D, Gunnarsson B, Eggertsson HP, Sulem P, Benonisdottir S, Csiki IE, Rascu S, Radavoi D, Ursu R, Staicu C, Calota V, Voinoiu A, Jinga M, Rosoga G, Danau R, Sima SC, Badescu D, Suciu N, Radoi V, Mates IN, Dobra M, Nicolae C, Kristjansdottir S, Jonasson JG, Manolescu A, Arnadottir G, Jensson B, Jonasdottir A, Sigurdsson A, le Roux L, Johannsdottir H, Rafnar T, Halldorsson BV, Jinga V, Stefansson K.

J Cell Mol Med. 2018 Dec;22(12):6068-6076. doi: 10.1111/jcmm.13881. Epub 2018 Oct 16.

2.

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Carneiro da Silva F, Ferreira JR, Torrezan GT, Figueiredo MC, Santos ÉM, Nakagawa WT, Brianese RC, Petrolini de Oliveira L, Begnani MD, Aguiar-Junior S, Rossi BM, Ferreira Fde O, Carraro DM.

PLoS One. 2015 Oct 5;10(10):e0139753. doi: 10.1371/journal.pone.0139753. eCollection 2015.

3.

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Jaballah-Gabteni A, Tounsi H, Kabbage M, Hamdi Y, Elouej S, Ben Ayed I, Medhioub M, Mahmoudi M, Dallali H, Yaiche H, Ben Jemii N, Maaloul A, Mezghani N, Abdelhak S, Hamzaoui L, Azzouz M, Boubaker S.

J Transl Med. 2019 Jun 27;17(1):212. doi: 10.1186/s12967-019-1961-9.

4.

Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy.

Najdawi F, Crook A, Maidens J, McEvoy C, Fellowes A, Pickett J, Ho M, Nevell D, McIlroy K, Sheen A, Sioson L, Ahadi M, Turchini J, Clarkson A, Hogg R, Valmadre S, Gard G, Dooley SJ, Scott RJ, Fox SB, Field M, Gill AJ.

Pathology. 2017 Aug;49(5):457-464. doi: 10.1016/j.pathol.2017.05.004. Epub 2017 Jun 30.

PMID:
28669579
5.

Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.

Dillon JL, Gonzalez JL, DeMars L, Bloch KJ, Tafe LJ.

Hum Pathol. 2017 Dec;70:121-128. doi: 10.1016/j.humpath.2017.10.022. Epub 2017 Oct 28.

PMID:
29107668
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.

MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

Giráldez MD, Balaguer F, Bujanda L, Cuatrecasas M, Muñoz J, Alonso-Espinaco V, Larzabal M, Petit A, Gonzalo V, Ocaña T, Moreira L, Enríquez-Navascués JM, Boland CR, Goel A, Castells A, Castellví-Bel S.

Clin Cancer Res. 2010 Nov 15;16(22):5402-13. doi: 10.1158/1078-0432.CCR-10-1491. Epub 2010 Oct 5.

8.

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
9.

Universal screening to identify Lynch syndrome: two years of experience in a Northern Italian Center.

Chiaravalli AM, Carnevali I, Sahnane N, Leoni E, Furlan D, Berselli M, Sessa F, Tibiletti MG.

Eur J Cancer Prev. 2019 Oct 11. doi: 10.1097/CEJ.0000000000000543. [Epub ahead of print]

PMID:
31609810
10.

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Morak M, Käsbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pagès A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E.

Fam Cancer. 2017 Oct;16(4):491-500. doi: 10.1007/s10689-017-9975-z.

PMID:
28528517
11.

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.

12.

Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.

Urso E, Agostini M, Pucciarelli S, Rugge M, Bertorelle R, Maretto I, Bedin C, D'Angelo E, Mescoli C, Zorzi M, Viel A, Bruttocao G, Ferraro B, Erroi F, Contin P, De Salvo GL, Nitti D.

Tumour Biol. 2012 Jun;33(3):857-64. doi: 10.1007/s13277-011-0312-0. Epub 2012 Jan 26.

PMID:
22278153
13.

Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.

Goverde A, Eikenboom EL, Viskil EL, Bruno MJ, Doukas M, Dinjens WNM, Dubbink HJ, van den Ouweland AMW, Hofstra RMW, Wagner A, Spaander MCW.

Clin Gastroenterol Hepatol. 2019 Aug 27. pii: S1542-3565(19)30918-8. doi: 10.1016/j.cgh.2019.08.043. [Epub ahead of print]

PMID:
31470178
14.

Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.

Soares BL, Brant AC, Gomes R, Pastor T, Schneider NB, Ribeiro-Dos-Santos Â, de Assumpção PP, Achatz MIW, Ashton-Prolla P, Moreira MAM.

Fam Cancer. 2018 Jul;17(3):387-394. doi: 10.1007/s10689-017-0043-5.

PMID:
28932927
15.

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Moreno-Ortiz JM, Ayala-Madrigal Mde L, Corona-Rivera JR, Centeno-Flores M, Maciel-Gutiérrez V, Franco-Topete RA, Armendáriz-Borunda J, Hotchkiss E, Pérez-Carbonell L, Rhees J, Boland CR, Gutiérrez-Angulo M.

Gastroenterol Res Pract. 2016;2016:5278024. doi: 10.1155/2016/5278024. Epub 2016 May 10.

16.

First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.

Ziada-Bouchaar H, Sifi K, Filali T, Hammada T, Satta D, Abadi N.

Fam Cancer. 2017 Jan;16(1):57-66. doi: 10.1007/s10689-016-9917-1.

PMID:
27468915
17.

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R.

Fam Cancer. 2011 Sep;10(3):515-20. doi: 10.1007/s10689-011-9436-z.

PMID:
21431882
18.

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, Spirandelli F, Ashton-Prolla P, Rodriguez Y, de Campos Reis Galvão H, Reis RM, Escremim de Paula A, Capochin Romagnolo LG, Alvarez K, Della Valle A, Neffa F, Kalfayan PG, Spirandelli E, Chialina S, Gutiérrez Angulo M, Castro-Mujica MDC, Sanchez de Monte J, Quispe R, da Silva SD, Rossi NT, Barletta-Carrillo C, Revollo S, Taborga X, Morillas LL, Tubeuf H, Monteiro-Santos EM, Piñero TA, Dominguez-Barrera C, Wernhoff P, Martins A, Hovig E, Møller P, Dominguez-Valentin M.

BMC Cancer. 2017 Sep 5;17(1):623. doi: 10.1186/s12885-017-3599-4.

19.

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.

Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F.

Cancer Manag Res. 2019 Jul 18;11:6719-6725. doi: 10.2147/CMAR.S167348. eCollection 2019.

20.

Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.

Schafmayer C, Buch S, Egberts JH, Franke A, Brosch M, El Sharawy A, Conring M, Koschnick M, Schwiedernoch S, Katalinic A, Kremer B, Fölsch UR, Krawczak M, Fändrich F, Schreiber S, Tepel J, Hampe J.

Int J Cancer. 2007 Aug 1;121(3):555-8.

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