» Articles » PMID: 37626640

Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street

Overview
Journal Biomedicines
Date 2023 Aug 26
PMID 37626640
Authors
Affiliations
Soon will be listed here.
Abstract

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).

Citing Articles

Progressive Cachexia: Tuberculosis, Cancer, or Thyrotoxicosis? Disease-Directed Therapy and Atypical Courses of Autoimmune and Malignant Thyroid Diseases in a High Specialization Era: Case-Control Study with a Critical Literature Review.

Zdziarski P, Sroka Z Biomedicines. 2025; 12(12.

PMID: 39767631 PMC: 11727103. DOI: 10.3390/biomedicines12122722.


Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Balinisteanu I, Caba L, Florea A, Popescu R, Florea L, Ungureanu M Curr Issues Mol Biol. 2024; 46(8):9093-9121.

PMID: 39194755 PMC: 11352740. DOI: 10.3390/cimb46080538.


Integrated Diagnostics of Thyroid Nodules.

Giovanella L, Campenni A, Tuncel M, Petranovic Ovcaricek P Cancers (Basel). 2024; 16(2).

PMID: 38254799 PMC: 10814240. DOI: 10.3390/cancers16020311.

References
1.
Achatz M, Zambetti G . The Inherited p53 Mutation in the Brazilian Population. Cold Spring Harb Perspect Med. 2016; 6(12). PMC: 5131754. DOI: 10.1101/cshperspect.a026195. View

2.
Sandoval R, Masotti C, Macedo M, Ribeiro M, Leite A, Meireles S . Identification of the p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome. JCO Glob Oncol. 2021; 7:1141-1150. PMC: 8457781. DOI: 10.1200/GO.21.00097. View

3.
Vazquez-Roman V, Cameselle-Teijeiro J, Fernandez-Santos J, Rios-Moreno M, Loidi L, Ortiz T . Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process. Endocr Pathol. 2022; 33(4):484-493. PMC: 9712347. DOI: 10.1007/s12022-022-09732-2. View

4.
Guilmette J, Nose V . Hereditary and familial thyroid tumours. Histopathology. 2017; 72(1):70-81. DOI: 10.1111/his.13373. View

5.
Hincza K, Kowalik A, Kowalska A . Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer. Genes (Basel). 2019; 10(7). PMC: 6678600. DOI: 10.3390/genes10070482. View