ReviewFamilial cancer2021
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
Review in Familial cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Clinicopathological and molecular characteristics of small cell carcinoma of the ovary, hypercalcemic type: three case reports.Discover oncology · 2026Article
- The Role of Chronic Inflammation in Pediatric Cancer.Cancers · 2025Review
- Review
- A Novel DNA Variant inInternational journal of molecular sciences · 2024Article
- Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective.Gynecologic oncology reports · 2023Article
- The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.Molecular genetics & genomic medicine · 2023Article
- Sex- and Co-Mutation-Dependent Prognosis in Patients with SMARCA4-Mutated Malignancies.Cancers · 2023Article
- International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines.Ecancermedicalscience · 2022Article
- Gene Expression-Based Signature Can Predict Sorafenib Response in Kidney Cancer.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Regardless of age of the patient, stage of the disease, and oncological treatment, the prognosis for SCCOHT is poor. Therefore, early intervention with risk-reducing surgeries is recommended for these patients. In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations of SMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within the SMARCA4 locus.
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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.