Journal of Hereditary Tumors
Online ISSN : 2435-6808
Clinical Experience
Experience of BRCA genetic testing as companion diagnostics for ovarian cancer and barriers of genetic counseling
Ikuro ItoAya NagaiMio KurozumiHiroshi Aoki
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JOURNAL OPEN ACCESS

2023 Volume 22 Issue 3 Pages 90-95

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Abstract

 In June 2019, the use of maintenance therapy with Olaparib was indicated for patients with newly diagnosed advanced ovarian cancer stageⅢ/Ⅳ and a BRCA1/2 mutation. At the same time, BRCA genetic testing was approved as companion diagnostics to whether we can use Olaparib as a treatment for ovarian cancer. By August 2021, we examined 13 BRCA genetic tests. Two patients were positive with BRCA1 pathogenic variant, and one was variant of uncertain significance(VUS). Two of pathogenic variant take Olaparib and have complete remission for 1 year. These two patients are recommended receiving genetic counseling, they do not receive because of undergoing adjuvant chemotherapy and anxiety about a test result. We must establish genetic counseling system for hereditary breast and ovarian cancer(HBOC)patients in our hospital.

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© 2023 The Japanese Society for Hereditary Tumors
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