The Clinical Course of Ovarian Cancer in a Patient with the Rare c.5286T>G (p.Y1762X) Mutation in the BRCA2 Gene
Objective of the Paper: To describe a clinical case of the rare c.5286T>G (p.Y1762X) mutation in the BRCA2 gene in a patient with stage IIIC ovarian cancer. Key Points: We have followed up a female patient with recurrent ovarian cancer. Since her disease had a favorable course (no signs of carcinomatosis or elevated tumor marker levels, long recurrence-free periods, and a positive response to platinum-based therapy), this patient qualified as a candidate for next generation sequencing (NGS) of the coding regions of the BRCA1 and BRCA2 genes. NGS revealed the c.5286T>G (p.Y1762X) mutation in the BRCA2 gene. At present the patient has no signs of tumor progression, as assessed by instrumental investigation. Conclusion: The indications for molecular genetic testing in cancer patients should be expanded, to identify hereditary cases and significantly change treatment strategies. Healthy relatives of such patients should also undergo testing. If this mutation is found in the patient's relatives, a cancer prevention and early diagnosis plan can be developed for them.