Table 8. Nonsyndromic Familial Nonmedullary Thyroid Cancer Susceptibility Loci

LocusLocationTumor TypeSample SizeaStudy TypeOriginal Cohort Country of OriginYearReferences
MNG114q31MNG with PTC 1 kindred Microsatellite linkageCanada1997[22]
18 MNG
2 PTC
TCO19p13.2PTC with oxyphilia1 kindred Microsatellite linkageFrance1998[23-26]
20 families
6 MNG
3 PTC
49 NMTC
fPTC/PRN1q21PTC with PRN1 kindred Microsatellite linkageUnited States2000[27]
5 PTC
2 PRN
NMTC12q21PTC (follicular variant)1 kindred, 80 pedigrees Microsatellite linkageTasmania2001[25,26,28]
19 families
49 NMTC
FTEN8p23.1-p22PTC (classic)1 kindred 10K SNP arrayPortugal2008[29]
11 benign
5 NMTC
Unknown8q24PTC with melanoma26 families50K SNP arrayUnited States2009[30]
FOXE19q22.33PTC/FTC 60 families 300K SNP arrayIceland/Spain/United States2009[31]
197 PTC/FTC
NKX2-1/TITF-114q13.3PTC and MNG 60 families 300K SNP arrayIceland/United States/Spain2009[31]
197 PTC/FTC
Unknown6q22PTC/FTC (classic)38 families 50K SNP arrayUnited States/Italy2009[32]
49 PTC
miR-886-3p5q31.2PTC21 PTC 3K miRNA arrayUnited States2011[33]
7 FNMTC
10 normal thyroid tissue
miR-20a13q31.3PTC21 PTC 3K miRNA arrayUnited States2011[33]
7 FNMTC
10 normal thyroid tissue
Telomere-telomerase complex (TERT, TRF1, TFR2, RAP1, TIN2, TPP1, POT1) 5p15.3 (TERT), etc.PTC47 PTC2008[34]
SRGAP112q14PTC38 families250K SNP arrayUnited States/Poland2013[35]
HAPB210q25-26PTC, follicular adenoma1 kindred WESUnited States2015[36]
7 PTC
RTFC (c14orf93)14q11.2PTC15 familiesWESChina2017[37]

FTC = follicular thyroid cancer; MNG = multinodular goiter; miRNA = microRNA; NMTC = nonmedullary thyroid cancer; PRN = papillary renal neoplasia; PTC = papillary thyroid cancer; SNP = single nucleotide polymorphism; WES = whole-exome sequencing.

aCombined across studies.

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

Cover of PDQ Cancer Information Summaries
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.

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