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Polymorphisms withi...
Polymorphisms within base and nucleotide excision repair pathways and risk of differentiated thyroid carcinoma
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- Cipollini, Monica (author)
- University of Pisa
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- Figlioli, Gisella (author)
- University of Pisa
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- Maccari, Giuseppe (author)
- Italian Institute of Technology
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- Garritano, Sonia (author)
- University of Trento
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- De Santi, Chiara (author)
- University of Pisa
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- Melaiu, Ombretta (author)
- University of Pisa
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- Barone, Elisa (author)
- University of Pisa
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- Bambi, Franco (author)
- University of Florence
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- Ermini, Stefano (author)
- University of Florence
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- Pellegrini, Giovanni (author)
- University of Pisa
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- Cristaudo, Alfonso (author)
- University of Pisa
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- Foddis, Rudy (author)
- University of Pisa
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- Bonotti, Alessandra (author)
- University of Pisa
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- Romei, Cristina (author)
- University of Pisa
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- Vivaldi, Agnese (author)
- University of Pisa
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- Agate, Laura (author)
- University of Pisa
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- Molinari, Eleonora (author)
- University of Pisa
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- Barale, Roberto (author)
- University of Pisa
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- Försti, 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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- Hemminki, Kari (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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- Elisei, Rossella (author)
- University of Pisa
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- Gemignani, Federica (author)
- University of Pisa
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- Landi, Stefano (author)
- University of Pisa
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English.
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In: DNA Repair. - : Elsevier BV. - 1568-7864. ; 41, s. 27-31
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http://dx.doi.org/10...
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https://arpi.unipi.i...
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https://doi.org/10.1...
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Abstract
Subject headings
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- The thyrocytes are exposed to high levels of oxidative stress which could induce DNA damages. Base excision repair (BER) is one of the principal mechanisms of defense against oxidative DNA damage, however recent evidences suggest that also nucleotide excision repair (NER) could be involved. The aim of present work was to identify novel differentiated thyroid cancer (DTC) risk variants in BER and NER genes. For this purpose, the most strongly associated SNPs within NER and BER genes found in our previous GWAS on DTC were selected and replicated in an independent series of samples for a new case-control study. Although a positive signal was detected at the nominal level of 0.05 for rs7689099 (encoding for an aminoacid change proline to arginine at codon 117 within NEIL3), none of the considered SNPs (i.e. rs7990340 and rs690860 within RFC3, rs3744767 and rs1131636 within RPA1, rs16962916 and rs3136166 in ERCC4, and rs17739370 and rs7689099 in NEIL3) was associated with the risk of DTC when the correction of multiple testing was applied. In conclusion, a role of NER and BER pathways was evoked in the susceptibility to DTC. However, this seemed to be limited to few polymorphic genes and the overall effect size appeared weak.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- BER
- Differentiated thyroid cancer risk
- NER
- Polymorphism
Publication and Content Type
- art (subject category)
- ref (subject category)
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DNA Repair
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- By the author/editor
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Cipollini, Monic ...
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Figlioli, Gisell ...
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Maccari, Giusepp ...
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Garritano, Sonia
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De Santi, Chiara
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Melaiu, Ombretta
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show more...
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Barone, Elisa
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Bambi, Franco
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Ermini, Stefano
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Pellegrini, Giov ...
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Cristaudo, Alfon ...
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Foddis, Rudy
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Bonotti, Alessan ...
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Romei, Cristina
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Vivaldi, Agnese
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Agate, Laura
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Molinari, Eleono ...
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Barale, Roberto
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Försti, Asta
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Hemminki, Kari
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Elisei, Rossella
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Gemignani, Feder ...
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Landi, Stefano
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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DNA Repair
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Lund University