Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk

Abstract

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Incidental diagnosis and surgery outcomes of thyroid cancer in Ecuador

“…Although this sample only represents a small subset of all thyroid cancers in Ecuador, histological characteristics and method of diagnosis are similar to the ones described in other reports [28][29][30][31][32][33] . We did not see an increased frequency of aggressive thyroid cancer histological findings that might explain the increase in thyroid cancer mortality in Ecuador.…”

Thyroid Cancer Overdiagnosis and Overtreatment: a cross- sectional study at a thyroid cancer referral center in Ecuador 

“…Although this sample only represents a small subset of all thyroid cancers in Ecuador, histological characteristics and methods of diagnosis are similar to the ones described in other reports [26][27][28][29][30][31] . We did not see an increased frequency of aggressive thyroid cancer histological ndings that might explain the increase in thyroid cancer mortality in Ecuador.…”

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

“…Studies in several countries [ 6 , 9 – 11 , 14 – 16 ] have revealed that FOXE1 locus polymorphisms in chromosome 9q22.33, such as rs965513 and polymorphisms (rs7849497, rs1867277, rs1867278, rs1867279, and rs1867280) in the promoter regions for this factor are associated with an increased risk of nonmedullary thyroid cancer, differentiated thyroid cancer, and the Bamforth–Lazarus syndrome, in which the mutation of a serine-57 to asparagine (S57N) in the forkhead-DNA binding domain of FOXE1 leads to CP, choanal atresia, bifid epiglottis, thyroid agenesis or dysgenesis, hypothyroidism, and spikey hair [ 22 ]. Although there is no clear evidence of the role of the rs1867279 and rs1867280 in CL, HT, and PTC pathogenesis, functional prediction analysis showed that both SNPs could modify the transcription factor binding site and thus modulate the expression of relevant genes in the thyroid morphogenesis.…”

“…The information about the association of the FOXE1 SNP rs1867277 with TC appears to vary with ethnicity and cancer type [ 16 , 23 ]. For example Bychkov et al [ 12 ] found overexpression of rs1867277 and rs965513 by immunohistochemical staining in PTC in Japanese persons.…”

“…Given the puzzling findings reported with rs1867277 [ 12 , 16 , 22 ] in FOXE1 or rs944289 in NKX2 [ 15 ], it is obvious that ethnicity and environmental factors play a key role for the development of TC and other malignancies. Additionally, the involvement of FOXE1 in thyroid formation and function, as well as the formation of craniofacial structures, relates mutations in the noncoding region of FOXE1 to the phenotype of our patient.…”