Chapter title |
Diagnosis and Management of Hereditary Thyroid Cancer.
|
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Chapter number | 3 |
Book title |
Rare Hereditary Cancers
|
Published in |
Recent results in cancer research Fortschritte der Krebsforschung Progrès dans les recherches sur le cancer, April 2016
|
DOI | 10.1007/978-3-319-29998-3_3 |
Pubmed ID | |
Book ISBNs |
978-3-31-929996-9, 978-3-31-929998-3
|
Authors |
Gul Bano, Shirley Hodgson, Bano, Gul, Hodgson, Shirley |
Editors |
Gabriella Pichert, Chris Jacobs |
Abstract |
Thyroid cancers are largely divided into medullary (MTC) and non-medullary (NMTC) cancers , depending on the cell type of origin. Familial non-medullary thyroid cancer (FNMTC) comprises about 5-15 % of NMTC and is a heterogeneous group of diseases, including both non-syndromic and syndromic forms. Non-syndromic FNMTC tends to manifest papillary thyroid carcinoma , usually multifocal and bilateral . Several high-penetrance genes for FNMTC have been identified, but they are often confined to a few or single families, and other susceptibility loci appear to play a small part, conferring only small increments in risk. Familial susceptibility is likely to be due to a combination of genetic and environmental influences. The current focus of research in FNMTC is to characterise the susceptibility genes and their role in carcinogenesis. FNMTC can also occur as a part of multitumour genetic syndromes such as familial adenomatous polyposis , Cowden's disease , Werner's syndrome and Carney complex . These tend to present at an early age and are multicentric and bilateral with distinct pathology. The clinical evaluation of these patients is similar to that for most patients with a thyroid nodule. Medullary thyroid cancer (MTC) arises from the parafollicular cells of the thyroid which release calcitonin. The familial form of MTC accounts for 20-25 % of cases and presents as a part of the multiple endocrine neoplasia type 2 (MEN 2) syndromes or as a pure familial MTC (FMTC). They are caused by germline point mutations in the RET oncogene on chromosome 10q11.2. There is a clear genotype-phenotype correlation, and the aggressiveness of FMTC depends on the specific genetic mutation, which should determine the timing of surgery. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Professor > Associate Professor | 4 | 17% |
Student > Postgraduate | 3 | 13% |
Student > Bachelor | 2 | 9% |
Professor | 1 | 4% |
Student > Master | 1 | 4% |
Other | 3 | 13% |
Unknown | 9 | 39% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 43% |
Biochemistry, Genetics and Molecular Biology | 1 | 4% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Psychology | 1 | 4% |
Agricultural and Biological Sciences | 1 | 4% |
Other | 0 | 0% |
Unknown | 9 | 39% |