The p.G534E variant of HABP2 is not associated with sporadic papillary thyroid carcinoma in a Polish population
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Artur Kowalik1,2, Danuta Gąsior-Perczak3, Martyna Gromek1, Monika Siołek4, Agnieszka Walczyk3, Iwona Pałyga3, Małgorzata Chłopek1, Janusz Kopczyński5, Ryszard Mężyk6, Aldona Kowalska3 and Stanisław Góźdź7,8
1Department of Molecular Diagnostics, Holycross Cancer Centre, Kielce, Poland
2Department of Surgery and Surgical Nursing with The Scientific Research Laboratory, The Faculty of Health Sciences of The Jan Kochanowski University, Kielce, Poland
3Endocrinology Clinic, Holycross Cancer Centre, Kielce, Poland
4Genetic Clinic, Holycross Cancer Centre, Kielce, Poland
5Department of Surgical Pathology, Holycross Cancer Centre, Kielce, Poland
6Cancer Epidemiology, Holycross Cancer Centre, Kielce, Poland
7Oncology Clinic, Holycross Cancer Centre, Kielce, Poland
8The Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland
Artur Kowalik, email: firstname.lastname@example.org
Keywords: p.G534E, sporadic papillary thyroid carcinoma, HABP2, thyroid cancer, non-medullary thyroid cancer
Received: October 20, 2016 Accepted: March 09, 2017 Published: April 06, 2017
Thyroid cancer is one of the most frequently diagnosed cancers of the endocrine system. There are no known genetic risk factors for non-medullary thyroid cancer, other than a small number of hereditary syndromes; however, approximately 5% of non-medullary thyroid cancer, designated familial non-medullary thyroid cancer, exhibits heritability. The p.G534E (c.1601G>A) variant of HABP2 was recently reported as a risk factor for familial non-medullary thyroid cancer, including papillary thyroid carcinoma. We analyzed the incidence of the c.1601G>A variant of HABP2 in a Polish population consisting of 326 cases of papillary thyroid carcinoma and 400 control individuals by DNA genotyping, performed by Sanger sequencing. The c.1601G>A variant was detected in 3.7% of sporadic papillary thyroid carcinoma cases and 4.7% of healthy controls, and we did not detect an association between this variant and sporadic papillary thyroid carcinoma risk (OR = 0.71, 95% CI: 0.33–1.51; p = 0.3758). Additionally, no significant associations were identified between clinical and pathological disease features, response to primary treatment, and clinical status at the end of the observation, and HABP2 c.1601G>A genotype. In conclusion, the p.G534E variant of HABP2 is not associated with sporadic papillary thyroid carcinoma risk in the Polish population.
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