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Thyroid carcinomas (TCs) are the most common type of endocrine tumours.
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Specifiche
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Gene | |
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informazioni generali
Thyroid carcinomas (TCs) are the most common type of endocrine tumours. They can originate from growth of follicular cells of the thyroid gland, which lead to familial or spontaneous thyroid follicular cell carcinomas (FCCs). The carcinomas don’t cause any signs or symptoms early in the disease. As thyroid cancer grows, it may cause swelling in the neck, voice changes and difficulties swallowing. The diagnosis is often before 10 years of age, implying an early onset of disease. FCCs occur in German longhaired pointers and are caused by autosomal recessive inherited gene mutations in the TPO gene. There are two mutations known on chromosome 17, that cause different carcinoma’s: Thyroid follicular cell carcinoma I (C>T) and Thyroid follicular cell carcinoma II (G>A).
Caratteristiche cliniche
Clinical signs include the presence of cervical mass, intermittent cough. In case of a hormone producing mass, alopecia, polyuria, polydipsia and lethargy can be seen.
Informazioni aggiuntive
Questo test si basa su uno studio di associazione sull'intero genoma che ha descritto due marcatori altamente associati. Pertanto, questi marcatori dovrebbero essere testati insieme.
Riferimenti
Pubmed ID: 34209805, 34464021
Omia ID: 2380