Genetic susceptibility to hereditary non-medullary thyroid cancer

Tina Kamani; Parsa Charkhchi; Afshan Zahedi; Mohammad R Akbari

doi:10.1186/s13053-022-00215-3

Genetic susceptibility to hereditary non-medullary thyroid cancer

Hered Cancer Clin Pract. 2022 Mar 7;20(1):9. doi: 10.1186/s13053-022-00215-3.

Authors

Tina Kamani¹, Parsa Charkhchi¹, Afshan Zahedi¹, Mohammad R Akbari^{2

3

4}

Affiliations

¹ Women's College Research Institute, University of Toronto, 76 Grenville St. Room 6421, Toronto, ON, M5S 1B2, Canada.
² Women's College Research Institute, University of Toronto, 76 Grenville St. Room 6421, Toronto, ON, M5S 1B2, Canada. mohammad.akbari@utoronto.ca.
³ Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, ON, M5S 1A8, Canada. mohammad.akbari@utoronto.ca.
⁴ Dalla Lana School of Public Health, University of Toronto, Toronto, ON, M5T 3M7, Canada. mohammad.akbari@utoronto.ca.

Abstract

Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5-15% of NMTC cases. Familial NMTC is further classified as non-syndromic and the less common syndromic FNMTC. Although syndromic NMTC has well-known genetic risk factors, the gene(s) responsible for the vast majority of non-syndromic FNMTC cases are yet to be identified. To date, several candidate genes have been identified as susceptibility genes in hereditary NMTC. This review summarizes genetic predisposition to non-medullary thyroid cancer and expands on the role of genetic variants in thyroid cancer tumorigenesis and the level of penetrance of NMTC-susceptibility genes.

Keywords: DIRC3; FOXE1; Familial non-medullary thyroid cancer; Germline mutations; HABP2; NRG1; SRGAP1; Thyroid cancer.

Publication types

Review