ArticleOrphanet journal of rare diseases2015
Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- Review
- LDL-receptor gene polymorphism as a predictor of coronary artery disease: an Egyptian pilot study: relation to lipid profile and angiographic findings.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024Article
- PFOA-Induced Ovotoxicity Differs Between Lean and Obese Mice With Impacts on Ovarian Reproductive and DNA Damage Sensing and Repair Proteins.Toxicological sciences : an official journal of the Society of Toxicology · 2022Article
- Wedding of Molecular Alterations and Immune Checkpoint Blockade: Genomics as a Matchmaker.Journal of the National Cancer Institute · 2021Review
- Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.Familial cancer · 2021Review
- Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.Frontiers in oncology · 2021Review
- The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk.Molecular genetics & genomic medicine · 2019Article
- An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.Journal of Cancer · 2019Review
- Article
- SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.The Journal of pathology · 2017Article
- Mammalian SWI/SNF complexes in cancer: emerging therapeutic opportunities.Current opinion in genetics & development · 2017Review
- Variants in the SMARCA4 gene was associated with coronary heart disease susceptibility in Chinese han population.Oncotarget · 2017Article
- The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.Gynecologic oncology · 2016Article
- Identification of a Novel Pathogenic Germline KDR Variant in Melanoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016Article
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10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously.
methodsWe looked for germline SMARCA4 alterations in eight patients with the SCCHT. DNA was extracted from probands' and their relatives' blood. The SMARCA4 coding sequence, previously found altered in all the tumors, was PCR amplified and sequenced in the germline DNA.
resultsTwo patients carried a heterozygous germline SMARCA4 alteration: c.3760G > T and c.2352insG, respectively. The analysis of the probands' next of kins revealed that the c.3760G > T mutation was inherited by the proband and her sister from their father, and the sisters' four children also carried the mutation. The proband's sister was diagnosed with a carcinoma of the parotid gland at age 2. A brother of the other proband was tested negative.
conclusionsOur study suggests that some women develop the ovarian SCCHT due to the inherited or possibly de novo-occurring germline alterations in the SMARCA4 gene, however, its penetrance appears limited. Nevertheless, because of high aggressiveness of the SCCHT, a molecular diagnostics of the SMARCA4 gene and careful follow-up should be offered to patients with this cancer and their families.
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