• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Identification of Lynch syndrome risk variants in the Romanian population.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Thumbnail
Name:
Identification ....pdf
Size:
94.24Kb
Format:
PDF
Download
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
Iordache, Paul D
Mates, Dana
Gunnarsson, Bjarni
Eggertsson, Hannes P
Sulem, Patrick
Benonisdottir, Stefania
Csiki, Irma Eva
Rascu, Stefan
Radavoi, Daniel
Ursu, Radu
Staicu, Catalin
Calota, Violeta
Voinoiu, Angelica
Jinga, Mariana
Rosoga, Gabriel
Danau, Razvan
Sima, Sorin Cristian
Badescu, Daniel
Suciu, Nicoleta
Radoi, Viorica
Mates, Ioan Nicolae
Dobra, Mihai
Nicolae, Camelia
Kristjansdottir, Sigrun
Jonasson, Jon G
Manolescu, Andrei
Arnadottir, Gudny
Jensson, Brynjar
Jonasdottir, Aslaug
Sigurdsson, Asgeir
Le Roux, Louise
Johannsdottir, Hrefna
Rafnar, Thorunn
Halldorsson, Bjarni V
Jinga, Viorel
Stefansson, Kari
Show allShow less
Issue Date
2018-12-01

Metadata
Show full item record
Citation
Identification of Lynch syndrome risk variants in the Romanian population. 2018, 22(12):6068-6076 J Cell Mol Med
Abstract
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).
Description
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download
Additional Links
https://onlinelibrary.wiley.com/doi/full/10.1111/jcmm.13881
ae974a485f413a2113503eed53cd6c53
10.1111/jcmm.13881
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
  • Authors: Engel C, Ahadova A, Seppälä TT, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel WT, Endris V, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Koornstra JJ, Langers AM, Lepistö A, Morak M, Möslein G, Peltomäki P, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF, German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group., Finnish Lynch Syndrome Registry.
  • Issue date: 2020 Apr
  • Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.
  • Authors: Dillon JL, Gonzalez JL, DeMars L, Bloch KJ, Tafe LJ
  • Issue date: 2017 Dec
  • Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
  • Authors: Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M
  • Issue date: 2016 Nov
  • Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy.
  • Authors: 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
  • Issue date: 2017 Aug
  • 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.
  • Authors: 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
  • Issue date: 2012 Jun

DSpace software (copyright © 2002 - 2022)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.