ArticleBiomolecules2019
Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways.
Article in Biomolecules, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- Whole Exome Sequencing IdentifiesInternational journal of molecular sciences · 2021Trial
- Vasodilatory Effect ofPlants (Basel, Switzerland) · 2025Article
- Traditional Chinese Medicine Treatment of Thyroid Cancer: A Review.International journal of general medicine · 2025Review
- Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.International journal of molecular sciences · 2023Article
- Three Grand Challenges in High Throughput Omics Technologies.Biomolecules · 2022Article
- Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.Molecular genetics and genomics : MGG · 2022Article
- 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
- Microbial consortium composed of Cellulomonas ZJW-6 and Acinetobacter DA-25 improves straw lignocellulose degradation.Archives of microbiology · 2022Article
- A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer.Endocrine · 2021Article
- A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer.Journal of personalized medicine · 2021Article
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors-A Cohort Study.Frontiers in endocrinology · 2021Article
- Identification of Potential lncRNAs and miRNAs as Diagnostic Biomarkers for Papillary Thyroid Carcinoma Based on Machine Learning.International journal of endocrinology · 2021Article
- Whole Genome Sequencing PrioritizesFrontiers in endocrinology · 2021Article
- A Germline Mutation in theCancers · 2020Article
- An update on familial nonmedullary thyroid cancer.Endocrine · 2020Review
- Dexamethasone Inhibits Spheroid Formation of Thyroid Cancer Cells Exposed to Simulated Microgravity.Cells · 2020Article
- Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.Frontiers in bioengineering and biotechnology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Evidence of familial inheritance in non-medullary thyroid cancer (NMTC) has accumulated over the last few decades. However, known variants account for a very small percentage of the genetic burden. Here, we focused on the identification of common pathways and networks enriched in NMTC families to better understand its pathogenesis with the final aim of identifying one novel high/moderate-penetrance germline predisposition variant segregating with the disease in each studied family. We performed whole genome sequencing on 23 affected and 3 unaffected family members from five NMTC-prone families and prioritized the identified variants using our Familial Cancer Variant Prioritization Pipeline (FCVPPv2). In total, 31 coding variants and 39 variants located in upstream, downstream, 5' or 3' untranslated regions passed FCVPPv2 filtering. Altogether, 210 genes affected by variants that passed the first three steps of the FCVPPv2 were analyzed using Ingenuity Pathway Analysis software. These genes were enriched in tumorigenic signaling pathways mediated by receptor tyrosine kinases and G-protein coupled receptors, implicating a central role of PI3K/AKT and MAPK/ERK signaling in familial NMTC. Our approach can facilitate the identification and functional validation of causal variants in each family as well as the screening and genetic counseling of other individuals at risk of developing NMTC.
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