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Eur J Surg Oncol. 2016 Oct;42(10):1455-63. doi: 10.1016/j.ejso.2016.08.006. Epub 2016 Aug 11.

The impact of family history on non-medullary thyroid cancer.

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Department of ENT/Head and Neck Surgery, NHS Lothian, Edinburgh University, UK; Department of Otolaryngology, Head and Neck Surgery, NHS Lothian, Edinburgh University, UK. Electronic address:
Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain; Fundación de Investigación e Innovación Biosanitaria del Principado de Asturias, Oviedo, Spain.
Head and Neck Cancer Unit, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.
Department of Surgery, School of Medicine, Universidad de Antioquia, Fundación Colombiana de Cancerología - Clínica Vida, Medellin, Colombia.
Department of Surgery and Surgical Ethics, The University of Chicago Medicine, Chicago, IL, USA.
University of Udine School of Medicine, Udine, Italy.
Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto Universitario de Oncología del Principado de Asturias, University of Oviedo, Oviedo, Spain.
Department of Head and Neck Surgery and Otorhinolaryngology, A.C. Camargo Cancer Center, Sao Paulo, SP, Brazil.
Department of Otolaryngology-Head and Neck Surgery, Institut Gustave Roussy, Villejuif Cedex, France; Laboratoire de Phonétique et de Phonologie, Sorbonne Nouvelle, Paris, France.
Department of Otolaryngology-Head and Neck Surgery, Mayo Clinic, Phoenix, AZ, USA.
Head and Neck Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Surgical Sciences, ENT Clinic, University of Udine School of Medicine, Udine; International Head and Neck Scientific Group, Italy.



Around 10% of patients with non-medullary thyroid cancer (NMTC) will have a positive family history for the disease. Although many will be sporadic, families where 3 first-degree relatives are affected can be considered to represent true familial non-medullary thyroid cancer (FNMTC). The genetic basis, impact on clinical and pathological features, and overall effect on prognosis are poorly understood.


A literature review identified articles which report on genetic, clinical, therapeutic and screening aspects of FNMTC. The results are presented to allow an understanding of the genetic basis and the impact on clinical-pathological features and prognosis in order to inform clinical decision making.


The genetic basis of FNMTC is unknown. Despite this, significant progress has been made in identifying potential susceptibility genes. The lack of a test for FNMTC has led to a clinical definition requiring a minimum of 3 first-degree relatives to be diagnosed with NMTC. Although some have shown an association with multi-centric disease, younger age and increased rates of extra-thyroidal extension and nodal metastases, these findings are not supported by all. The impact of FNMTC is unclear with all groups reporting good outcome, and some finding an association with more aggressive disease. The role of screening remains controversial.


FNMTC is rare but can be diagnosed clinically. Its impact on prognostic factors and the subsequent role in influencing management is debated. For those patients who present with otherwise low-risk differentiated thyroid cancer, FNMTC should be included in risk assessment when discussing therapeutic options.


Familial thyroid cancer; Family history; Thyroid cancer

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