| Autor: |
Balinisteanu I; Endocrinology Department, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.; Endocrinology Department, 'Sf. Spiridon' Hospital, 700106 Iasi, Romania., Panzaru MC; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Caba L; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Ungureanu MC; Endocrinology Department, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.; Endocrinology Department, 'Sf. Spiridon' Hospital, 700106 Iasi, Romania., Florea A; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Grigore AM; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Gorduza EV; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania. |
| Abstrakt: |
Cancer predisposition syndromes are entities determined especially by germinal pathogenic variants, with most of them autosomal dominantly inherited. The risk of a form of cancer is variable throughout life and affects various organs, including the thyroid. Knowing the heterogeneous clinical picture and the existing genotype-phenotype correlations in some forms of thyroid cancer associated with these syndromes is important for adequate and early management of patients and families. This review synthesizes the current knowledge on genes and proteins involved in cancer predisposition syndromes with thyroid cancer and the phenomena of heterogeneity (locus, allelic, mutational, and clinical). |
