Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
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Summary
A pathogenic missense heterozygous SEC23B variant is identified that results in ER-stress-mediated cell-colony formation and survival, growth, and invasion, which reflect aspects of a cancer phenotype, and these findings suggest a different role forSEC23B.
- Type
- article
- Published
- 2015-11-05
- Cited by
- 74
- References
- 81
- Access
- Open access
- OpenAlex
- https://openalex.org/W1876702349
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:11301663
Keywords
Cowden syndrome, Germline, Thyroid, Thyroid cancer, Biology
References
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Cited by
- Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis.
- Hereditary Colorectal Cancer
- Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice
- ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
- CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis
- Familial non-medullary thyroid cancer: unraveling the genetic maze.
- Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma
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- Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing
- Insertion of Alu elements at a PTEN hotspot in Cowden syndrome
- Familial thyroid carcinoma: the road less traveled in thyroid pathology – an update
- Syndrome mit breitem Tumorspektrum
- The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable In Vivo
- Hereditary and familial thyroid tumours
- Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
- Proteomic Profiling of Mammalian COPII Vesicles
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- 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.
- Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway
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