[Table], Table 9. Nonsyndromic Familial Nonmedullary Thyroid Cancer Susceptibility Loci - PDQ Cancer Information Summaries

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Table 9. Nonsyndromic Familial Nonmedullary Thyroid Cancer Susceptibility Loci

Locus	Location	Tumor Type	Sample Size^a	Study Type	Original Cohort Country of Origin	Year	References
MNG1	14q31	MNG with PTC	1 kindred	Microsatellite linkage	Canada	1997	[21]
			18 MNG
			2 PTC
TCO	19p13.2	PTC with oxyphilia	1 kindred	Microsatellite linkage	France	1998	[22 - 25]
			20 families
			6 MNG
			3 PTC
			49 NMTC
fPTC/PRN	1q21	PTC with PRN	1 kindred	Microsatellite linkage	United States	2000	[26]
			5 PTC
			2 PRN
NMTC1	2q21	PTC (follicular variant)	1 kindred, 80 pedigrees	Microsatellite linkage	Tasmania	2001	[24 ,25 ,27]
			19 families
			49 NMTC
FTEN	8p23.1-p22	PTC (classic)	1 kindred	10K SNV array	Portugal	2008	[28]
			11 benign
			5 NMTC
Unknown	8q24	PTC with melanoma	26 families	50K SNV array	United States	2009	[29]
FOXE1	9q22.33	PTC/FTC	60 families	300K SNV array	Iceland/Spain/United States	2009	[30]
FOXE1	9q22.33	PTC/FTC	197 PTC/FTC	300K SNV array	Iceland/Spain/United States	2009	[30]
NKX2-1/TITF-1	14q13.3	PTC and MNG	60 families	300K SNV array	Iceland/United States/Spain	2009	[30]
NKX2-1/TITF-1	14q13.3	PTC and MNG	197 PTC/FTC	300K SNV array	Iceland/United States/Spain	2009	[30]
Unknown	6q22	PTC/FTC (classic)	38 families	50K SNV array	United States/Italy	2009	[31]
Unknown	6q22	PTC/FTC (classic)	49 PTC	50K SNV array	United States/Italy	2009	[31]
miR-886-3p	5q31.2	PTC	21 PTC	3K miRNA array	United States	2011	[32]
			7 FNMTC
			10 normal thyroid tissue
miR-20a	13q31.3	PTC	21 PTC	3K miRNA array	United States	2011	[32]
			7 FNMTC
			10 normal thyroid tissue
Telomere-telomerase complex (TERT, TRF1, TFR2, RAP1, TIN2, TPP1, POT1)	5p15.3 (TERT), etc.	PTC	47 PTC			2008	[33]
SRGAP1	12q14	PTC	38 families	250K SNV array	United States/Poland	2013	[34]
HAPB2	10q25-26	PTC, follicular adenoma	1 kindred	WES	United States	2015	[35]
HAPB2	10q25-26	PTC, follicular adenoma	7 PTC	WES	United States	2015	[35]
RTFC (c14orf93)	14q11.2	PTC	15 families	WES	China	2017	[36]

: FTC = follicular thyroid cancer; MNG = multinodular goiter; miRNA = microRNA; NMTC = nonmedullary thyroid cancer; PRN = papillary renal neoplasia; PTC = papillary thyroid cancer; SNV = single nucleotide variant; WES = whole-exome sequencing.
: ^aCombined across studies.

From: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

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