Biomaterial Database

Familial non medullary thyroid carcinoma: Beyond the syndromic forms. 2021

Aida Orois, and Mireia Mora, and Irene Halperin, and Josep Oriola

Servicio de Endocrinología y Nutrición, Hospital Universitari Mútua de Terrassa, Terrassa, Barcelona, Spain; Servicio de Endocrinología y Nutrición, ICMDM, Hospital Clínic de Barcelona, Barcelona, Spain. Electronic address: aorois@clinic.cat.

Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder.

UI	MeSH Term	Description	Entries
D009386	Neoplastic Syndromes, Hereditary	The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.	Cancer Syndromes, Hereditary,Hereditary Cancer Syndromes,Hereditary Neoplastic Syndromes,Cancer Syndrome, Hereditary,Hereditary Cancer Syndrome,Hereditary Neoplastic Syndrome,Neoplastic Syndrome, Hereditary,Syndrome, Hereditary Cancer,Syndrome, Hereditary Neoplastic,Syndromes, Hereditary Cancer,Syndromes, Hereditary Neoplastic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077273	Thyroid Cancer, Papillary	An ADENOCARCINOMA that originates from follicular cells of the THYROID GLAND and accounts for the majority of THYROID CANCER cases. Cells exhibit enlarged, oval, or elongated morphologies with clear, round, nuclei. Fusions of RET, NTRK1, TPM3, and PCM1 genes are associated with this cancer.	Familial Nonmedullary Thyroid Cancer,Nonmedullary Thyroid Carcinoma,Papillary Carcinoma Of Thyroid,Papillary Thyroid Carcinoma,Thyroid Carcinoma, Papillary,Cancer, Papillary Thyroid,Cancers, Papillary Thyroid,Carcinoma, Nonmedullary Thyroid,Carcinoma, Papillary Thyroid,Carcinomas, Nonmedullary Thyroid,Carcinomas, Papillary Thyroid,Nonmedullary Thyroid Carcinomas,Papillary Thyroid Cancer,Papillary Thyroid Cancers,Papillary Thyroid Carcinomas,Thyroid Cancers, Papillary,Thyroid Carcinoma, Nonmedullary,Thyroid Carcinomas, Nonmedullary,Thyroid Carcinomas, Papillary
D013964	Thyroid Neoplasms	Tumors or cancer of the THYROID GLAND.	Cancer of Thyroid,Thyroid Cancer,Cancer of the Thyroid,Neoplasms, Thyroid,Thyroid Adenoma,Thyroid Carcinoma,Adenoma, Thyroid,Adenomas, Thyroid,Cancer, Thyroid,Cancers, Thyroid,Carcinoma, Thyroid,Carcinomas, Thyroid,Neoplasm, Thyroid,Thyroid Adenomas,Thyroid Cancers,Thyroid Carcinomas,Thyroid Neoplasm