Thyroid cancer, predominantly of papillary histology (PTC), is a common cancer mostly diagnosed sporadically. Hereditary PTC is encountered in ~ 5% of cases and may present at an earlier age, with greater risks of metastasis and recurrence, compared with sporadic cases. The molecular basis of hereditary PTC is unknown in most cases. In this study, the genetic basis of hereditary PTC in three Brazilian families was investigated. Whole exome sequencing (WES) was carried out for probands in each family, and validated, pathogenic/likely pathogenic sequence variants (P/LPSVs) were genotyped in additional family members to establish their putative pathogenic role. Overall, seven P/LPSVs in seven novel genes were detected: p.D283N*ANXA3, p.Y157S*NTN4, p.G172W*SERPINA1, p.G188S*FKBP10, p.R937C*PLEKHG5, p.L32Q*P2RX5, and p.Q76*SAPCD1. These results indicate that these novel genes are seemingly associated with hereditary PTC, but extension and validation in other PTC families are required.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12022-020-09607-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Development of a novel tool for individual treatment trials in mucopolysaccharidosis.
J Inherit Metab Dis
January 2025
Institute of Congenital Metabolic Diseases, Paracelsus Medical University, Salzburg, Austria.
Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage disorders, linked to reduced life expectancy and a significant lack of effective treatment options. Immunomodulatory drugs could have the potential to be a relevant medical approach, as the accumulation of undegraded substances initiates an innate immune response, which leads to inflammation and clinical deterioration. However, immunomodulators are not licensed for this indication.
View Article and Find Full Text PDFThe simultaneous occurrence of more than two types of neoplasms is rare due to their significant phenotypic differences. Thyroid carcinoma is regularly associated with genetic alterations and endocrine syndromes. However, the etiology of the forms of papillary thyroid carcinoma (PTC)/medullary thyroid carcinoma (MTC) is still not fully understood.
View Article and Find Full Text PDFWhat's new in cardiac amyloidosis? Pharmacological treatment, physical activity, and care of patients with transthyretin cardiac amyloidosis.
Ther Adv Cardiovasc Dis
November 2024
Cardiovascular Pharmacology Research Group, Department of Pharmacology and Toxicology, Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Awareness, proper diagnosis and treatment of cardiac amyloidosis have increased, but there are still several unmet needs that have to be addressed for the optimal care of the disease. In this comprehensive review, we describe current and future treatments for both hereditary and wild-type TTR cardiac amyloidosis and also review lifestyle, including current challenges and opportunities for specific dietary concerns and exercise sports for these patients.
View Article and Find Full Text PDFSpecific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations.
Neurobiol Dis
November 2024
Department of Medical Biosciences, Clinical Chemistry, Umeå University, SE-901 85 Umeå, Sweden. Electronic address:
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression delays disease progression and has recently been approved in the United States and the European Union. However, the discovery of children homozygous for inactivating SOD1 mutations developing the SOD1 Deficiency Syndrome (ISODDES) with injury to the motor system suggests that a too low SOD1 antioxidant activity may be deleterious in humans.
View Article and Find Full Text PDFHolomics and Artificial Intelligence-Driven Precision Oncology for Medullary Thyroid Carcinoma: Addressing Challenges of a Rare and Aggressive Disease.
Cancers (Basel)
October 2024
SAMRC Precision Oncology Research Unit (PORU), DSI/NRF SARChI, Precision Oncology and Cancer Prevention (POCP), University of Pretoria, Pretoria 0028, South Africa.
Medullary thyroid carcinoma (MTC) is a rare yet aggressive form of thyroid cancer comprising a disproportionate share of thyroid cancer-related mortalities, despite its low prevalence. MTC differs from other differentiated thyroid malignancies due to its heterogeneous nature, presenting complexities in both hereditary and sporadic cases. Traditional management guidelines, which are designed primarily for papillary thyroid carcinoma (PTC), fall short in providing the individualized care required for patients with MTC.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!