Carolina Pires, Ana Saramago, Margarida M Moura, Jing Li, Sara Donato, Inês J Marques, Hélio Belo, Ana C Machado, Rafael Cabrera, Thomas G P Grünewald, Valeriano Leite, Branca M Cavaco
Germline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the role of FOXE1 in Portuguese families (F1 and F2) with members diagnosed with malignant struma ovarii (MSO), an ovarian teratoma with ectopic malignant thyroid tissue, papillary TC (PTC) and CP. Two rare germline heterozygous variants in the FOXE1 promoter were identified: F1) c.-522G>C, in the proband (MSO) and her mother (asymptomatic); F2) c...
February 6, 2024: International Journal of Molecular Sciences