Review of the genetics of thyroid tumours: diagnostic and prognostic implications

Gilfillan, Christopher

doi:10.1111/j.1445-2197.2009.05173.x

Cited by 18 publications

(12 citation statements)

References 64 publications

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“…The majority of endocrine malignancies are thyroid cancer (TC), which accounts for more than 90% and contributes to more than 50% of all deaths from endocrine cancers (Gilfillan 2010;Aschebrook-Kilfoy et al, 2011). The exact etiology of TC remains unknown, but exposure to ionizing radiation at a young age is the best-known and only verified risk factor (Papadopoulou et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Associations Between XRCC1 Arg399Gln, Arg194Trp, and Arg280His Polymorphisms and Risk of Differentiated Thyroid Carcinoma: A Meta-analysis

Du¹,

Han²,

Li³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Background: Associations between Arg399Gln, Arg194Trp and Arg280His polymorphisms of the XRCC1 gene and risk of differentiated thyroid carcinoma (DTC) have been widely studied but the findings are contradictory. Methods: We performed a meta-analysis in the present study using STATA 11.0 software to clarify any associations. Electronic literature databases and reference lists of relevant articles revealed a total of 10, 6 and 6 published studies for the Arg399Gln, Arg194Trp and Arg280His polymorphisms, respectively. Results: No significant associations were observed between Arg399Gln and DTC risk in all genetic models within the overall and subgroup meta-analyses, while the Trp/Trp vs Arg/Arg and recessive model of the Arg194Trp polymorphism was associated with DTC susceptibility, and the dominant model of Arg280His polymorphism contributed to DTC susceptibility in Caucasians. Conclusions: Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC development.

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Section: Introductionmentioning

confidence: 99%

Associations Between XRCC1 Arg399Gln, Arg194Trp, and Arg280His Polymorphisms and Risk of Differentiated Thyroid Carcinoma: A Meta-analysis

Du¹,

Han²,

Li³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…Thyroid cancer is of special concern in endocrinology because it accounts for more than 90% of all endocrine cancers and contributes to more than 50% of all deaths from endocrine cancers (Gilfillan, 2010;Aschebrook-Kilfoy et al, 2011). So far, exposure to ionizing radiation is the only well established risk factor for thyroid cancer, especially when it occurs in early stages of life (Papadopoulou et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

Qian¹,

Liu²,

Xu³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…Papillary carcinomas may carry point mutations of the BRAF and RAS genes and RET/PTC and TRK rearrangements, all of which are able to activate the mitogen-activated protein kinase (MAPK) pathway [2,3,4]. These mutations are mutually exclusive and they are found in more than 70% of PTCs [5,6]. …”

Section: Introductionmentioning

confidence: 99%

<i>BRAF</i> Mutation Testing of Thyroid Fine-Needle Aspiration Specimens Enhances the Predictability of Malignancy in Thyroid Follicular Lesions of Undetermined Significance

et al. 2011

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Background/Objective: The Bethesda 2007 Thyroid Cytology Classification defines atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) as a heterogeneous category of cases that are neither convincingly benign nor sufficiently atypical for a diagnosis of follicular neoplasm or suspicious for malignancy. At our institution, we refer to these cases as ‘indeterminate’ and they are further subclassified into two categories. BRAF mutation occurs in 40–60% of papillary thyroid carcinoma (PTC). In this study, we examined cases in the AUS/FLUS category in correlation with BRAF mutation analysis and surgical pathology outcome. Study Design: Thyroid fine-needle aspiration (FNA) cytology specimens interpreted as ‘indeterminate’ were selected from our files, and available remnants of thin-layer processed specimens were used for BRAF mutation analysis. Surgical pathology reports were reviewed for the final outcomes in these patients. Results: Of the 84 indeterminate cases with BRAF mutation analysis, only 49 had follow-up with surgical intervention. Sixteen cases had BRAF mutation. All of the BRAF-positive cases had a final diagnosis of PTC. Conclusions: The sensitivity and specificity of BRAF mutation in detecting PTC in FNA specimens with indeterminate diagnosis was 59.3 and 100%, respectively, while the positive and negative predictive values were 100 and 65.6%, respectively. The limited data supports the use of BRAF mutation analysis to predict the risk of malignancy in patients with indeterminate thyroid FNAs.

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Review of the genetics of thyroid tumours: diagnostic and prognostic implications

Abstract: It is likely that a combination of molecular testing and cytological examination of FNAB specimens will prove to be the most efficient and specific method of diagnosing thyroid cancer preoperatively.

Cited by 18 publications

References 64 publications

Associations Between XRCC1 Arg399Gln, Arg194Trp, and Arg280His Polymorphisms and Risk of Differentiated Thyroid Carcinoma: A Meta-analysis

Associations Between XRCC1 Arg399Gln, Arg194Trp, and Arg280His Polymorphisms and Risk of Differentiated Thyroid Carcinoma: A Meta-analysis

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

<i>BRAF</i> Mutation Testing of Thyroid Fine-Needle Aspiration Specimens Enhances the Predictability of Malignancy in Thyroid Follicular Lesions of Undetermined Significance

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