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// Artur Kowalik 1, 2 , Danuta Gąsior-Perczak 3 , Martyna Gromek 1 , Monika Siolek 4 , Agnieszka Walczyk 3 , Iwona Palyga 3 , Malgorzata Chlopek 1 , Janusz Kopczynski 5 , Ryszard Mezyk 6 , Aldona Kowalska 3 and Stanislaw Goźdź 7, 8 1 Department of Molecular Diagnostics, Holycross Cancer Centre, Kielce, Poland 2 Department of Surgery and Surgical Nursing with The Scientific Research Laboratory, The Faculty of Health Sciences of The Jan Kochanowski University, Kielce, Poland 3 Endocrinology Clinic, Holycross Cancer Centre, Kielce, Poland 4 Genetic Clinic, Holycross Cancer Centre, Kielce, Poland 5 Department of Surgical Pathology, Holycross Cancer Centre, Kielce, Poland 6 Cancer Epidemiology, Holycross Cancer Centre, Kielce, Poland 7 Oncology Clinic, Holycross Cancer Centre, Kielce, Poland 8 The Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland Correspondence to: Artur Kowalik, email: arturko@onkol.kielce.pl 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 ABSTRACT 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. |
