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.
Highlights
Thyroid cancer (TC) is one of the most frequently diagnosed endocrine malignancies worldwide [1] and its incidence is rising in Poland and elsewhere [2]
Gara et al published the results of a study indicating a relationship between the c.1601G>A variant in the HABP2 gene and papillary thyroid cancer (PTC) in a large multigenerational family [5]
There is some controversy regarding the definition of familial non-medullary thyroid cancer (FNMTC), which can be designated by as few as two cases of TC in the immediate family
Summary
Thyroid cancer (TC) is one of the most frequently diagnosed endocrine malignancies worldwide [1] and its incidence is rising in Poland and elsewhere [2]. Among NMTC cases, 85% are papillary thyroid cancer (PTC) [4]. Variant of HABP2 (rs7080536; p.G534E), which sparked hope of a new genetic marker that could be useful for TC patient stratification and clinical management. Their investigations demonstrated a role for HABP2 as a tumor suppressor, suggesting that the identified variant is pathogenic [5]. Research has been conducted using data from European populations (English and Spanish), there is a lack of information about the prevalence of this variant in PTC patient populations in Eastern Europe [12, 13]. We assessed the prevalence of the c.1601G>A variant of HABP2 in patients with sporadic PTC and a control Polish population, characterized by high homogeneity
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