Results of the single marker association tests for each of the 141 DNA repair-related SNPs with MAF ≥ 0.05 present on the SNP Cancer Panel array which have passed genotyping quality controls. (XLS 145 kb

Ausrele Kesminiene (4023647)

Christine Lonjou (4023650)

Elisabeth Cardis (4023641)

Fabienne Lesueur (10534)

Florence Le Calvez-Kelm (107221)

Francesca Damiola (5331)

Geoffroy Durand (107242)

Graham Byrnes (66091)

Irina Malakhova (4023656)

Monika Moissonnier (4023653)

Vladimir Masyakin (4023644)

BMC Cancer

Annotation of the 1421 SNPs present on the Illumina SNP Cancer Panel array. (XLS 302 kb

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Additional file 1: Table S1. of Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation

BACKGROUND: Genetic factors may influence an individual's
                sensitivity to ionising radiation and therefore modify his/her
                risk of developing papillary thyroid carcinoma (PTC).
                Previously, we reported that common single nucleotide
                polymorphisms (SNPs) within the DNA damage recognition gene ATM
                contribute to PTC risk in Belarusian children exposed to fallout
                from the Chernobyl power plant accident. Here we explored in the
                same population the contribution of a panel of DNA
                repair-related SNPs in genes acting downstream of ATM. METHODS:
                The association of 141 SNPs located in 43 DNA repair genes was
                examined in 75 PTC cases and 254 controls from the Gomel region
                in Belarus. All subjects were younger than 15 years at the time
                of the Chernobyl accident. Conditional logistic regressions
                accounting for radiation dose were performed with PLINK using
                the additive allelic inheritance model, and a linkage
                disequilibrium (LD)-based Bonferroni correction was used for
                correction for multiple testing. RESULTS: The intronic SNP
                rs2296675 in MGMT was associated with an increased PTC risk [per
                minor allele odds ratio (OR) 2.54 95% CI 1.50, 4.30, P per
                allele = 0.0006, P corr.= 0.05], and gene-wide association
                testing highlighted a possible role for ERCC5 (P Gene = 0.01)
                and PCNA (P Gene = 0.05) in addition to MGMT (P Gene = 0.008).
                CONCLUSIONS: These findings indicate that several genes acting
                in distinct DNA repair mechanisms contribute to PTC risk.
                Further investigation is needed to decipher the functional
                properties of the methyltransferase encoded by MGMT and to
                understand how alteration of such functions may lead to the
                development of the most common type of thyroid cancer

Lonjou, Christine

Damiola, Francesca

Moissonnier, Monika

Durand, Geoffroy

Malakhova, Irina

Masyakin, Vladimir

Le Calvez-Kelm, Florence

Cardis, Elisabeth

Byrnes, Graham

Kesminiene, Ausrele

Lesueur, Fabienne

Diposit Digital de la Universitat de Barcelona

Investigation of DNA repair-related SNPs underlying
                susceptibility to papillary thyroid carcinoma reveals MGMT as a
                novel candidate gene in Belarusian children exposed to radiation

Cartwright, W

RMIT Research Repository

Visualizing alternative futures

Additional file 2: Table S2. of Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation

BACKGROUND: Genetic factors may influence an individual's sensitivity to ionising radiation and therefore modify his/her risk of developing papillary thyroid carcinoma (PTC). Previously, we reported that common single nucleotide polymorphisms (SNPs) within the DNA damage recognition gene ATM contribute to PTC risk in Belarusian children exposed to fallout from the Chernobyl power plant accident. Here we explored in the same population the contribution of a panel of DNA repair-related SNPs in genes acting downstream of ATM. METHODS: The association of 141 SNPs located in 43 DNA repair genes was examined in 75 PTC cases and 254 controls from the Gomel region in Belarus. All subjects were younger than 15 years at the time of the Chernobyl accident. Conditional logistic regressions accounting for radiation dose were performed with PLINK using the additive allelic inheritance model, and a linkage disequilibrium (LD)-based Bonferroni correction was used for correction for multiple testing. RESULTS: The intronic SNP rs2296675 in MGMT was associated with an increased PTC risk [per minor allele odds ratio (OR) 2.54 95% CI 1.50, 4.30, P per allele = 0.0006, P corr.= 0.05], and gene-wide association testing highlighted a possible role for ERCC5 (P Gene = 0.01) and PCNA (P Gene = 0.05) in addition to MGMT (P Gene = 0.008). CONCLUSIONS: These findings indicate that several genes acting in distinct DNA repair mechanisms contribute to PTC risk. Further investigation is needed to decipher the functional properties of the methyltransferase encoded by MGMT and to understand how alteration of such functions may lead to the development of the most common type of thyroid cancer

UPF Digital Repository

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation

Abstract Background Genetic factors may influence an individual’s sensitivity to ionising radiation and therefore modify his/her risk of developing papillary thyroid carcinoma (PTC). Previously, we reported that common single nucleotide polymorphisms (SNPs) within the DNA damage recognition gene ATM contribute to PTC risk in Belarusian children exposed to fallout from the Chernobyl power plant accident. Here we explored in the same population the contribution of a panel of DNA repair-related SNPs in genes acting downstream of ATM. Methods The association of 141 SNPs located in 43 DNA repair genes was examined in 75 PTC cases and 254 controls from the Gomel region in Belarus. All subjects were younger than 15 years at the time of the Chernobyl accident. Conditional logistic regressions accounting for radiation dose were performed with PLINK using the additive allelic inheritance model, and a linkage disequilibrium (LD)-based Bonferroni correction was used for correction for multiple testing. Results The intronic SNP rs2296675 in MGMT was associated with an increased PTC risk [per minor allele odds ratio (OR) 2.54 95% CI 1.50, 4.30, P per allele = 0.0006, P corr.= 0.05], and gene-wide association testing highlighted a possible role for ERCC5 (P Gene = 0.01) and PCNA (P Gene = 0.05) in addition to MGMT (P Gene = 0.008). Conclusions These findings indicate that several genes acting in distinct DNA repair mechanisms contribute to PTC risk. Further investigation is needed to decipher the functional properties of the methyltransferase encoded by MGMT and to understand how alteration of such functions may lead to the development of the most common type of thyroid cancer

Christine Lonjou

Francesca Damiola

Monika Moissonnier

Geoffroy Durand

Irina Malakhova

Vladimir Masyakin

Florence Le Calvez-Kelm

Elisabeth Cardis

Graham Byrnes

Ausrele Kesminiene

Fabienne Lesueur

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https://figshare.com/articles/Additional_file_2_Table_S2_of_Investigation_of_DNA_repair-related_SNPs_underlying_susceptibility_to_papillary_thyroid_carcinoma_reveals_MGMT_as_a_novel_candidate_gene_in_Belarusian_children_exposed_to_radiation/5004374

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