ArticleAmerican journal of human genetics2015
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- High-throughput proteomics of breast cancer interstitial fluid: identification of tumor subtype-specific serologically relevant biomarkers.Molecular oncology · 2021Trial
- Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.JCO precision oncology · 2025Article
- Constitutional Mutation ofGenes · 2024Article
- A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.NAR genomics and bioinformatics · 2024Article
- Adaptations of membrane trafficking in cancer and tumorigenesis.Journal of cell science · 2024Review
- ER exit in physiology and disease.Frontiers in molecular biosciences · 2024Review
- Peroxiredoxins in erythrocytes: far beyond the antioxidant role.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.Biomedicines · 2023Review
- Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.BMC medical genomics · 2023Review
- Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.NPJ genomic medicine · 2023Article
- SEC24D gene as a biomarker in human cancers and its association with CD8+ T cell immune cell infiltration.American journal of translational research · 2023Article
- Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.American journal of human genetics · 2022Article
- LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin.The Biochemical journal · 2022Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.Orphanet journal of rare diseases · 2022Article
- Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022Review
- Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum.Annals of surgical oncology · 2021Article
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- The Genomics of Elevated ALT and Adducts in Therapeutic Acetaminophen Treatment: a Pilot Study.Journal of medical toxicology : official journal of the American College of Medical Toxicology · 2021Article
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Authors and funding
11 authors at 6 institutions in 3 countries.
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Abstract
Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c.1781T>G [p.Val594Gly]) that segregates with the phenotype. We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers. We note that the TCGA thyroid cancer dataset is enriched with unique germline deleterious SEC23B variants associated with a significantly younger age of onset. SEC23B encodes Sec23 homolog B (S. cerevisiae), a component of coat protein complex II (COPII), which transports proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. Interestingly, germline homozygous or compound-heterozygous SEC23B mutations cause an unrelated disorder, congenital dyserythropoietic anemia type II, and SEC23B-deficient mice suffer from secretory organ degeneration due to ER-stress-associated apoptosis. By characterizing the p.Val594Gly variant in a normal thyroid cell line, we show that it is a functional alteration that results in ER-stress-mediated cell-colony formation and survival, growth, and invasion, which reflect aspects of a cancer phenotype. Our findings suggest a different role for SEC23B, whereby germline heterozygous variants associate with cancer predisposition potentially mediated by ER stress "addiction."
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