Article
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
Familial cancer - 1 Oct 2021
Pastorczak Agata, Krajewska Karolina, Urbanska Zuzanna, Szmyd Bartosz, Salacinska-Los Elzbieta, Kobos Józef, Mlynarski Wojciech, Trelinska Joanna
Abstract excerpt
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...
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