ArticleEndocrine pathology2020
Germline Mutations in Familial Papillary Thyroid Cancer.
Article in Endocrine pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- High levels of P2RX5 expression predicts a poor prognosis and promotes tumor progression in endometrial cancer.International journal of clinical and experimental pathology · 2026Article
- CTHRC1 is associated withBiomolecules & biomedicine · 2024Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- Article
- Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.International journal of molecular sciences · 2023Article
- Penetrating Exploration of Prognostic Correlations of the FKBP Gene Family with Lung Adenocarcinoma.Journal of personalized medicine · 2022Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.Endocrine connections · 2022Article
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Papillary Thyroid Cancer Affecting Multiple Family Members: A Case Report and Literature Review of Familial Nonmedullary Thyroid Cancer.Case reports in endocrinology · 2021Article
- Annexin A3, a Calcium-Dependent Phospholipid-Binding Protein: Implication in Cancer.Frontiers in molecular biosciences · 2021Review
- Down-Regulation of an Autophagy-Related GeneOncoTargets and therapy · 2021Article
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Germline Mutation inCancers · 2020Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.