Ovarian carcinoma in children with constitutional mutation of SMARCA4 : single-family report and literature review

In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations ofSMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within theSMARCA4 locus.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research