Polymorphisms in base excision repair genes and thyroid cancer risk

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Abstract

Thyroid cancer (TC) is the most frequent endocrine malignancy, accounting however for only 1-2\% of all human cancers, and tilt: best-established risk factor for TC is radiation exposure, particularly during childhood. Since the BER pathway seems to play an important role in the repair of DNA damage induced by IR and other genotoxicants, we carried out a hospital-based case-control study in order to evaluate the potential modifying role of 6 BER polymorphisms on the individual susceptibility to non-familial TC in 109 TC patients receiving iodine-131, and 217 controls matched for age ( 2 years), gender and ethnicity. Our results do not reveal a significant involvement of XRCCI Arg194Trp and Arg399Gln, OGGI Ser326Cys, APEXI Asp148Glu, MUTYH Gln335His and,PARPI Val762Ala polymorphisms on the individual susceptibility towards TC, mostly in aggreement with the limited available evidence. By histological stratification analyis, we observed that the association between the presence of heterozygozity in the MUTYH Gln335His polymorphism and TC risk almost reached significance for the papillary subtype of TC. This was the first time that the putative association between this polymorphism and TC susceptibility was evaluated. However, since the sample size was modest, the possibility of a type I error should not be excluded and this result should, therefore, be interpreted with caution. More in depth studies involving larger populations should be pursued in order to further clarify the potential usefulness of the MUTYH Gln335His genotype as a predictive biomarker of susceptibility to TC and the role of the remaining BER polymorphisms on TC susceptibility.
Original languageEnglish
Pages (from-to)1859-1868
JournalOncology Reports
Volume28
Issue number5
DOIs
Publication statusPublished - 2012

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Thyroid Neoplasms
DNA Repair
Genes
Iodine
Sample Size
DNA Damage
Case-Control Studies
Neoplasms
Biomarkers
Genotype
Population

Cite this

@article{a4e434794b324b3eacdc61a8fa366172,
title = "Polymorphisms in base excision repair genes and thyroid cancer risk",
abstract = "Thyroid cancer (TC) is the most frequent endocrine malignancy, accounting however for only 1-2\{\%} of all human cancers, and tilt: best-established risk factor for TC is radiation exposure, particularly during childhood. Since the BER pathway seems to play an important role in the repair of DNA damage induced by IR and other genotoxicants, we carried out a hospital-based case-control study in order to evaluate the potential modifying role of 6 BER polymorphisms on the individual susceptibility to non-familial TC in 109 TC patients receiving iodine-131, and 217 controls matched for age ( 2 years), gender and ethnicity. Our results do not reveal a significant involvement of XRCCI Arg194Trp and Arg399Gln, OGGI Ser326Cys, APEXI Asp148Glu, MUTYH Gln335His and,PARPI Val762Ala polymorphisms on the individual susceptibility towards TC, mostly in aggreement with the limited available evidence. By histological stratification analyis, we observed that the association between the presence of heterozygozity in the MUTYH Gln335His polymorphism and TC risk almost reached significance for the papillary subtype of TC. This was the first time that the putative association between this polymorphism and TC susceptibility was evaluated. However, since the sample size was modest, the possibility of a type I error should not be excluded and this result should, therefore, be interpreted with caution. More in depth studies involving larger populations should be pursued in order to further clarify the potential usefulness of the MUTYH Gln335His genotype as a predictive biomarker of susceptibility to TC and the role of the remaining BER polymorphisms on TC susceptibility.",
keywords = "DNA base excision repair, XRCC1 POLYMORPHISMS, SNPs polymorphisms, BREAST-CANCER, CARCINOMA, ASSOCIATION, SUSCEPTIBILITY, MUTYH-ASSOCIATED POLYPOSIS, cancer susceptibility, thyroid cancer, DNA-REPAIR, JAPANESE POPULATION, PATHWAY GENES, COMMON VARIANTS",
author = "Silva, {Susana N.} and Azevedo, {Ana Paula da Silva} and Jos{\'e} Rueff and Gaspar, {Jorge F.}",
note = "info:eu-repo/grantAgreement/FCT/SFRH/SFRH{\%}2FBD{\%}2F22612{\%}2F2005/PT# We wish to thank Luisa Manso Oliveira, Lylliane Luz, Silvia Morgado Amaro and Maria Catarina Soveral for technical support. This study was supported by the Center for Research in Human Molecular Genetics (CIGMH), Projects PTDC/SAU-OSM/105572/2008, PTDC/SAU-ESA/102367/2008 and PTDC/QUI/67522/2006 from Fundacao para a Ciencia e Tecnologia (FCT) and Fundacao Calouste Gulbenkian (Grant 76438/2006). The grants to M. Pingarilho (SFRH/BD/22612/2005) from FCT are also acknowledged",
year = "2012",
doi = "10.3892/or.2012.1975",
language = "English",
volume = "28",
pages = "1859--1868",
journal = "Oncology Reports",
issn = "1021-335X",
publisher = "Spandidos Publications",
number = "5",

}

TY - JOUR

T1 - Polymorphisms in base excision repair genes and thyroid cancer risk

AU - Silva, Susana N.

AU - Azevedo, Ana Paula da Silva

AU - Rueff, José

AU - Gaspar, Jorge F.

N1 - info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F22612%2F2005/PT# We wish to thank Luisa Manso Oliveira, Lylliane Luz, Silvia Morgado Amaro and Maria Catarina Soveral for technical support. This study was supported by the Center for Research in Human Molecular Genetics (CIGMH), Projects PTDC/SAU-OSM/105572/2008, PTDC/SAU-ESA/102367/2008 and PTDC/QUI/67522/2006 from Fundacao para a Ciencia e Tecnologia (FCT) and Fundacao Calouste Gulbenkian (Grant 76438/2006). The grants to M. Pingarilho (SFRH/BD/22612/2005) from FCT are also acknowledged

PY - 2012

Y1 - 2012

N2 - Thyroid cancer (TC) is the most frequent endocrine malignancy, accounting however for only 1-2\% of all human cancers, and tilt: best-established risk factor for TC is radiation exposure, particularly during childhood. Since the BER pathway seems to play an important role in the repair of DNA damage induced by IR and other genotoxicants, we carried out a hospital-based case-control study in order to evaluate the potential modifying role of 6 BER polymorphisms on the individual susceptibility to non-familial TC in 109 TC patients receiving iodine-131, and 217 controls matched for age ( 2 years), gender and ethnicity. Our results do not reveal a significant involvement of XRCCI Arg194Trp and Arg399Gln, OGGI Ser326Cys, APEXI Asp148Glu, MUTYH Gln335His and,PARPI Val762Ala polymorphisms on the individual susceptibility towards TC, mostly in aggreement with the limited available evidence. By histological stratification analyis, we observed that the association between the presence of heterozygozity in the MUTYH Gln335His polymorphism and TC risk almost reached significance for the papillary subtype of TC. This was the first time that the putative association between this polymorphism and TC susceptibility was evaluated. However, since the sample size was modest, the possibility of a type I error should not be excluded and this result should, therefore, be interpreted with caution. More in depth studies involving larger populations should be pursued in order to further clarify the potential usefulness of the MUTYH Gln335His genotype as a predictive biomarker of susceptibility to TC and the role of the remaining BER polymorphisms on TC susceptibility.

AB - Thyroid cancer (TC) is the most frequent endocrine malignancy, accounting however for only 1-2\% of all human cancers, and tilt: best-established risk factor for TC is radiation exposure, particularly during childhood. Since the BER pathway seems to play an important role in the repair of DNA damage induced by IR and other genotoxicants, we carried out a hospital-based case-control study in order to evaluate the potential modifying role of 6 BER polymorphisms on the individual susceptibility to non-familial TC in 109 TC patients receiving iodine-131, and 217 controls matched for age ( 2 years), gender and ethnicity. Our results do not reveal a significant involvement of XRCCI Arg194Trp and Arg399Gln, OGGI Ser326Cys, APEXI Asp148Glu, MUTYH Gln335His and,PARPI Val762Ala polymorphisms on the individual susceptibility towards TC, mostly in aggreement with the limited available evidence. By histological stratification analyis, we observed that the association between the presence of heterozygozity in the MUTYH Gln335His polymorphism and TC risk almost reached significance for the papillary subtype of TC. This was the first time that the putative association between this polymorphism and TC susceptibility was evaluated. However, since the sample size was modest, the possibility of a type I error should not be excluded and this result should, therefore, be interpreted with caution. More in depth studies involving larger populations should be pursued in order to further clarify the potential usefulness of the MUTYH Gln335His genotype as a predictive biomarker of susceptibility to TC and the role of the remaining BER polymorphisms on TC susceptibility.

KW - DNA base excision repair

KW - XRCC1 POLYMORPHISMS

KW - SNPs polymorphisms

KW - BREAST-CANCER

KW - CARCINOMA

KW - ASSOCIATION

KW - SUSCEPTIBILITY

KW - MUTYH-ASSOCIATED POLYPOSIS

KW - cancer susceptibility

KW - thyroid cancer

KW - DNA-REPAIR

KW - JAPANESE POPULATION

KW - PATHWAY GENES

KW - COMMON VARIANTS

U2 - 10.3892/or.2012.1975

DO - 10.3892/or.2012.1975

M3 - Article

VL - 28

SP - 1859

EP - 1868

JO - Oncology Reports

JF - Oncology Reports

SN - 1021-335X

IS - 5

ER -