Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp121 | Endocrine Case Reports | ECE2018

Coexistence of papillary thyroid cancer and malignancies of other organs in patients carrying CHEK2 gene mutations – case series.

Syrenicz Anhelli , Koziolek Monika , Sieradzka Anna , Rudnicka Marta , Kiedrowicz Bartek , Kazmierczyk-Puchalska Agnieszka

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...

ea0056gp238 | Thyroid Cancer - Translational | ECE2018

Carrying mutations truncating CHEK2 protein predisposes to thyroid neoplasms – preliminary report

Syrenicz Anhelli , Koziolek Monika , Rudnicka Marta , Sieradzka Anna , Cybulski Cezary , Kiedrowicz Bartek

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...

ea0056p198 | Bone ' Osteoporosis | ECE2018

Relationships between hormonal parameters, body fat distribution and bone mineral density in women with menstrual disorders

Syrenicz Malgorzata , Sowinska-Przepiera Elzbieta , Andrysiak-Mamos Elzbieta , Kiedrowicz Bartosz , Sieradzka Anna , Syrenicz Anhelli

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 ...

ea0037ep971 | Thyroid (non-cancer) | ECE2015

The role of detecting BRAF T199A mutation in fine-needle aspiration biopsy in pre-operative diagnosis of nodular goitre

Syrenicz Anhelli , Koziolek Monika , Kiedrowicz Bartosz , Parczewski Milosz , Stepaniuk Maria , Andrysiak-Mamos Elzbieta , Obloza Joanna , Sieradzka Anna , Binczak-Kuleta Agnieszka

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)...