Endocrine Abstracts

Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. Coexistence of thyroid and breast cancers was observed in female carriers of CHEK2 gene mutations. In polish population the most common mutations are those truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Carrying missense I157T mutation is connected with having twice...

Introduction: CHEK2 gene is one of the genes in the DNA repair complex. Dysfunction of genes in this complex leads to genomic instability and is regarded as a cause of tumorigenesis. CHEK2 mutations spectrum was assessed in many populations, including polish one. The most common are mutations truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Literature data indicate that mutations truncating CHEK2 protein lead to a five-fold incre...

Available evidence suggests that unfavorable changes in the distribution of body fat resulting from hormonal imbalance associated with ovarian insufficiency may exert detrimental effects on bone mineral density (BMD). The aim of this study was to verify if densitometrically determined volumes of visceral (VAT), female (FAT) and android (AAT) adipose tissue influence BMD in women with menstrual disorders, and if these relationships are modulated by endocrine factors. The study ...

Introduction: Molecular testing play increasingly a significant role in pre-operative diagnosis of nodular goiter, as standard methods may not give conclusive decision in choosing optimal treatment approach. BRAF gene mutations are often discovered in the cytological specimens among the patients with papillary thyroid cancer. The aim of the study was to assess the incidence of BRAF T1799A mutation in cellular specimens derived from fine needle aspiration biopsy (FNAB)...