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Original Investigation |

Establishing a Familial Basis for Papillary Thyroid Carcinoma Using the Utah Population Database

Gretchen M. Oakley, MD1; Karen Curtin, PhD2,3; Richard Pimentel, MS2; Luke Buchmann, MD1,2; Jason Hunt, MD1,2
[+] Author Affiliations
1Division of Otolaryngology–Head and Neck Surgery, University of Utah School of Medicine, Salt Lake City
2Huntsman Cancer Institute, University of Utah, Salt Lake City
3Department of Medicine, University of Utah, Salt Lake City
JAMA Otolaryngol Head Neck Surg. 2013;139(11):1171-1174. doi:10.1001/jamaoto.2013.4987.
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Importance  Determining if relatives of patients diagnosed as having papillary thyroid carcinoma (PTC) are at increased risk of developing the same cancer—and if so, which relatives and to what degree—would help identify those who require closer clinical attention. This could lead to earlier cancer detection and improved prognoses.

Objective  To define the familial risk of PTC using a unique population research database.

Design, Setting, Participants  Retrospective review at a tertiary care facility using the Utah Population Database, which is linked to medical records and the Utah Cancer Registry, from 1966 through 2011. The study population comprised 4460 patients diagnosed as having PTC in Utah between 1966 and 2011 and their first- through fifth-degree relatives and spouses. These patients were compared 5:1 with matched, population-based controls.

Main Outcomes and Measures  Statistically significant increased risk of PTC in any first- through fifth-degree relatives or spouses of patients diagnosed as having this cancer.

Results  First-, second-, and third-degree relatives of PTC probands had a significant increased risk of developing this cancer compared with population controls. First-degree relatives of probands were at a 5.4-fold increased risk (P < 10−15) of being diagnosed as having this cancer themselves. Second- and third-degree relatives had a 2.2-fold (P < 10−11) and 1.8-fold increased risk (P < 10−8), respectively. Siblings of probands were at highest risk (odd ratio, 6.8; P < 10−15). There was no significant increased risk observed in spouses of probands.

Conclusions and Relevance  In the largest population study to date, a high risk of PTC is confirmed in first-degree relatives. Furthermore, significant increased risk extends to second- and third-degree relatives but not to spouses of probands. Translational studies are needed to better define the genetic predisposition to familial papillary thyroid cancer and for the development and implementation of optimal screening approaches.

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