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Inherited variants in genes somatically mutated in thyroid cancer

Campo, Chiara (author)
German Cancer Research Centre,University of Pisa
Kohler, Aleksandra (author)
German Cancer Research Centre
Figlioli, Gisella (author)
University of Pisa,German Cancer Research Centre
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Elisei, Rossella (author)
University of Pisa
Romei, Cristina (author)
University of Pisa
Cipollini, Monica (author)
University of Pisa
Bambi, Franco (author)
Meyer Children's Hospital
Hemminki, Kari (author)
Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups
Gemignani, Federica (author)
University of Pisa
Landi, Stefano (author)
University of Pisa
Forsti, Asta (author)
Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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 (creator_code:org_t)
2017-04-14
2017
English.
In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 12:4
Related links:
http://dx.doi.org/10... (free)
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  • Journal article (peer-reviewed)
Abstract Subject headings
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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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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