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Inherited variants ...
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Campo, ChiaraGerman Cancer Research Centre,University of Pisa
(author)
Inherited variants in genes somatically mutated in thyroid cancer
- Article/chapterEnglish2017
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2017-04-14
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Public Library of Science (PLoS),2017
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LIBRIS-ID:oai:lup.lub.lu.se:48d4e396-36ae-42cb-b0d6-243803b17372
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https://lup.lub.lu.se/record/48d4e396-36ae-42cb-b0d6-243803b17372URI
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https://doi.org/10.1371/journal.pone.0174995DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
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Background Tumour suppressor genes when mutated in the germline cause various cancers, but they can also be somatically mutated in sporadic tumours. We hypothesized that there may also be cancer-related germline variants in the genes commonly mutated in sporadic well-differentiated thyroid cancer (WDTC). Methods We performed a two-stage case-control association study with a total of 2214 cases and 2108 healthy controls from an Italian population. By genotyping 34 single nucleotide polymorphisms (SNPs), we covered a total of 59 missense SNPs and SNPs located in the 5' and 3' untranslated regions (UTRs) of 10 different genes. Results The Italian1 series showed a suggestive association for 8 SNPs, from which three were replicated in the Italian2 series. The meta-analysis revealed a study-wide significant association for rs459552 (OR: 0.84, 95%CI: 0.75-0.94) and rs1800900 (OR: 1.15, 95%CI: 1.05-1.27), located in the APC and GNAS genes, respectively. The APC rs459552 is a missense SNP, located in a conserved amino acid position, but without any functional consequences. The GNAS rs1800900 is located at a conserved 5'UTR and according to the experimental ENCODE data it may affect promoter and histone marks in different cell types. Conclusions The results of this study yield new insights on WDTC, showing that inherited variants in the APC and GNAS genes can play a role in the etiology of thyroid cancer. Further studies are necessary to better understand the role of the identified SNPs in the development of WDTC and to functionally validate our in silico predictions.
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Kohler, AleksandraGerman Cancer Research Centre
(author)
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Figlioli, GisellaUniversity of Pisa,German Cancer Research Centre
(author)
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Elisei, RossellaUniversity of Pisa
(author)
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Romei, CristinaUniversity of Pisa
(author)
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Cipollini, MonicaUniversity of Pisa
(author)
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Bambi, FrancoMeyer Children's Hospital
(author)
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Hemminki, KariLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups(Swepub:lu)med-khk
(author)
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Gemignani, FedericaUniversity of Pisa
(author)
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Landi, StefanoUniversity of Pisa
(author)
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Forsti, AstaLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-asf
(author)
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German Cancer Research CentreUniversity of Pisa
(creator_code:org_t)
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In:PLoS ONE: Public Library of Science (PLoS)12:41932-6203
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Campo, Chiara
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Kohler, Aleksand ...
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Figlioli, Gisell ...
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Elisei, Rossella
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Romei, Cristina
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Cipollini, Monic ...
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Bambi, Franco
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Hemminki, Kari
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Gemignani, Feder ...
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Landi, Stefano
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Forsti, Asta
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- MEDICAL AND HEALTH SCIENCES
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Lund University