SMARCA4 germline gene mutation in a patient with epithelial ovarian: A case report

Reshma Muppala, Talia Donenberg, Marilyn S. Huang, Matthew P. Schlumbrecht

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. To date, there are no data identifying an association with more common epithelial carcinomas of the ovary. Case The patient is a 57-year-old female without any significant family history of cancer, diagnosed with high-grade serous carcinoma of the ovary. Per guideline, she underwent genetic testing, and was found to have a deleterious germline SMARCA4 mutation. She was treated with standard chemotherapy and an optimal tumor reduction, with a complete response to treatment. Conclusion The etiology of this patient's high-grade serous carcinoma is unknown. If the SMARCA4 gene plays a role in serous ovarian carcinoma it is with variable expressivity. Further investigation into the role of SMARCA4 as a susceptibility gene for epithelial ovarian cancer is warranted.

Original languageEnglish (US)
Pages (from-to)45-47
Number of pages3
JournalGynecologic Oncology Reports
StatePublished - Nov 2017


  • Serous ovarian cancer
  • Susceptibility

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology


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