Identification of Lynch syndrome risk variants in the Romanian population.
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Authors
Iordache, Paul DMates, 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
Issue Date
2018-12-01
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Identification of Lynch syndrome risk variants in the Romanian population. 2018, 22(12):6068-6076 J Cell Mol MedAbstract
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
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https://onlinelibrary.wiley.com/doi/full/10.1111/jcmm.13881ae974a485f413a2113503eed53cd6c53
10.1111/jcmm.13881
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