title: Familial nonmedullary thyroid cancer: screening, clinical, molecular and genetic findings.
abstract: Thyroid cancer, the commonest of endocrine malignancies, continues increasing in incidence being the 5th more prevalent cancer among women in the United States in 2012. Familial thyroid cancer has become a well-recognized, unique, clinical entity in patients with thyroid cancer originating from follicular cells, that is, nonmedullary thyroid carcinoma. Hereditary nonmedullary thyroid cancer may occur as a minor component of familial cancer syndromes (familial adenomatous polyposis, Gardner's syndrome, Cowden's disease, Carney's complex type 1, Werner's syndrome, and papillary renal neoplasia) or as a primary feature (familial nonmedullary thyroid cancer [FNMTC]). Although there is some controversy, some epidemiologic and clinical kindred studies have shown that FNMTC is associated with more aggressive disease than sporadic cases, with higher rates of multicentric tumours, lymph node metastasis, extrathyroidal invasion, and shorter disease-free survival. This way, preventing screening will allow earlier detection, more timely intervention, and hopefully improved outcomes for patients and their families. On the other hand, in the last years, an important number of genetic studies on FNMTC have been published, trying to determine its genetic contribution. However, the genetic inheritance of FNMTC remains unclear; but it is believed to be autosomal dominant with incomplete penetrance and variable expressivity. This paper provides an extensive overview of FNMTC from several points of view. Firstly, the impact of early detection on prognosis, secondly, the management and follow-up of FNMTC patients, and finally, the role of susceptibility loci, microRNAs (miRNAs) and telomerases in recently identified isolated cases of FNMTC.
authors.affiliation: Department of Surgery, Hospital Universitario Virgen de la Arrixaca, University of Murcia, Murcia, Spain.
authors.forename: Diana
authors.initials: D
authors.lastname: Navas-Carrillo
authors.affiliation: Department of Surgery, Hospital Universitario Virgen de la Arrixaca, University of Murcia, Murcia, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Ríos
authors.affiliation: Department of Surgery, Hospital Universitario Virgen de la Arrixaca, University of Murcia, Murcia, Spain.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Rodríguez
authors.affiliation: Department of Surgery, Hospital Universitario Virgen de la Arrixaca, University of Murcia, Murcia, Spain.
authors.forename: Pascual
authors.initials: P
authors.lastname: Parrilla
authors.affiliation: Department of Biochemistry and Molecular Biology-A, Biomedical Research Institute (IMIB), Campus of Lorca, University of Murcia, Spain. Electronic address: eorenes@um.es.
authors.forename: Esteban
authors.initials: E
authors.lastname: Orenes-Piñero
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D035683:MicroRNAs / Q000502:physiology; D019098:Telomerase / Q000502:physiology; D016615:Telomere; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics*
chemical_list: D035683:MicroRNAs; D019098:Telomerase
keywords: Familial nonmedullary thyroid cancer; Screening; Susceptibility loci; Telomerase; miRNA