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Diagnosis is suspected when a patient with family history of two of the three classical tumors (medullary thyroid cancer, pheochromocytoma, parathyroid adenoma) or MEN2 presents with one of the classical tumors. It is confirmed by genetic testing for mutation in RET gene. [5]
Thyroid cancer accounts for less than 1% of cancer cases and deaths in the UK. Around 2,700 people were diagnosed with thyroid cancer in the UK in 2011, and around 370 people died from the disease in 2012. [69] However, in South Korea, thyroid cancer was the 5th most prevalent cancer, which accounted for 7.7% of new cancer cases in 2020. [70]
Medullary thyroid cancer is a form of thyroid carcinoma which originates from the parafollicular cells (C cells), which produce the hormone calcitonin. [1] Medullary tumors are the third most common of all thyroid cancers and together make up about 3% of all thyroid cancer cases. [2] MTC was first characterized in 1959. [3]
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
RET loss of function mutations are associated with the development of Hirschsprung's disease, [6] [7] while gain of function mutations are associated with the development of various types of human cancer, including papillary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. [citation ...
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
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