Balinisteanu Ioana, Panzaru Monica-Cristina, Caba Lavinia, Ungureanu Maria-Christina, Florea Andreea, Grigore Ana Maria, Gorduza Eusebiu Vlad
Endocrinology Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Endocrinology Department, "Sf. Spiridon" Hospital, 700106 Iasi, Romania.
Biomedicines. 2023 Jul 29;11(8):2143. doi: 10.3390/biomedicines11082143.
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).
癌症易感性综合征是一类尤其由生殖细胞致病性变异所决定的疾病实体，其中大多数呈常染色体显性遗传。患某种癌症的风险在一生中是可变的，且会影响包括甲状腺在内的各种器官。了解与这些综合征相关的某些甲状腺癌形式的异质性临床表现以及现有的基因型 - 表型相关性，对于患者及其家庭的充分和早期管理至关重要。本综述综合了目前关于与甲状腺癌相关的癌症易感性综合征中涉及的基因和蛋白质以及异质性现象（基因座、等位基因、突变和临床）的知识。
