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Identification of Lynch syndrome risk variants in the Romanian population. 2018
Paul D Iordache, and
Dana Mates, and
Bjarni Gunnarsson, and
Hannes P Eggertsson, and
Patrick Sulem, and
Stefania Benonisdottir, and
Irma Eva Csiki, and
Stefan Rascu, and
Daniel Radavoi, and
Radu Ursu, and
Catalin Staicu, and
Violeta Calota, and
Angelica Voinoiu, and
Mariana Jinga, and
Gabriel Rosoga, and
Razvan Danau, and
Sorin Cristian Sima, and
Daniel Badescu, and
Nicoleta Suciu, and
Viorica Radoi, and
Ioan Nicolae Mates, and
Mihai Dobra, and
Camelia Nicolae, and
Sigrun Kristjansdottir, and
Jon G Jonasson, and
Andrei Manolescu, and
Gudny Arnadottir, and
Brynjar Jensson, and
Aslaug Jonasdottir, and
Asgeir Sigurdsson, and
Louise le Roux, and
Hrefna Johannsdottir, and
Thorunn Rafnar, and
Bjarni V Halldorsson, and
Viorel Jinga, and
Kari Stefansson
deCODE genetics/AMGEN, Reykjavik, Iceland.
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).
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Stefan Rascu, and
Daniel Radavoi, and
Radu Ursu, and
Catalin Staicu, and
Violeta Calota, and
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Camelia Nicolae, and
Sigrun Kristjansdottir, and
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Daniel Badescu, and
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Viorica Radoi, and
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Mihai Dobra, and
Camelia Nicolae, and
Sigrun Kristjansdottir, and
Jon G Jonasson, and
Andrei Manolescu, and
Gudny Arnadottir, and
Brynjar Jensson, and
Aslaug Jonasdottir, and
Asgeir Sigurdsson, and
Louise le Roux, and
Hrefna Johannsdottir, and
Thorunn Rafnar, and
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Viorel Jinga, and
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Radu Ursu, and
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Stefan Rascu, and
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Catalin Staicu, and
Violeta Calota, and
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Mariana Jinga, and
Gabriel Rosoga, and
Razvan Danau, and
Sorin Cristian Sima, and
Daniel Badescu, and
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Ioan Nicolae Mates, and
Mihai Dobra, and
Camelia Nicolae, and
Sigrun Kristjansdottir, and
Jon G Jonasson, and
Andrei Manolescu, and
Gudny Arnadottir, and
Brynjar Jensson, and
Aslaug Jonasdottir, and
Asgeir Sigurdsson, and
Louise le Roux, and
Hrefna Johannsdottir, and
Thorunn Rafnar, and
Bjarni V Halldorsson, and
Viorel Jinga, and
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Stefan Rascu, and
Daniel Radavoi, and
Radu Ursu, and
Catalin Staicu, and
Violeta Calota, and
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Mariana Jinga, and
Gabriel Rosoga, and
Razvan Danau, and
Sorin Cristian Sima, and
Daniel Badescu, and
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Viorica Radoi, and
Ioan Nicolae Mates, and
Mihai Dobra, and
Camelia Nicolae, and
Sigrun Kristjansdottir, and
Jon G Jonasson, and
Andrei Manolescu, and
Gudny Arnadottir, and
Brynjar Jensson, and
Aslaug Jonasdottir, and
Asgeir Sigurdsson, and
Louise le Roux, and
Hrefna Johannsdottir, and
Thorunn Rafnar, and
Bjarni V Halldorsson, and
Viorel Jinga, and
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Dana Mates, and
Bjarni Gunnarsson, and
Hannes P Eggertsson, and
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Irma Eva Csiki, and
Stefan Rascu, and
Daniel Radavoi, and
Radu Ursu, and
Catalin Staicu, and
Violeta Calota, and
Angelica Voinoiu, and
Mariana Jinga, and
Gabriel Rosoga, and
Razvan Danau, and
Sorin Cristian Sima, and
Daniel Badescu, and
Nicoleta Suciu, and
Viorica Radoi, and
Ioan Nicolae Mates, and
Mihai Dobra, and
Camelia Nicolae, and
Sigrun Kristjansdottir, and
Jon G Jonasson, and
Andrei Manolescu, and
Gudny Arnadottir, and
Brynjar Jensson, and
Aslaug Jonasdottir, and
Asgeir Sigurdsson, and
Louise le Roux, and
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