Journal of Hereditary Tumors
Online ISSN : 2435-6808
Case report
Serous borderline tumor of ovary with BRCA2 germ line pathogenic variants: a case report
Yusuke UjiharaChiaki IzumiyaYayoi HiguchiMari TashiroNagamasa Maeda
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JOURNAL OPEN ACCESS

2023 Volume 22 Issue 3 Pages 75-79

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Abstract

 The most of ovarian cancer in the hereditary breast cancer ovarian cancer syndrome (HBOC) are high grade serous carcinoma (HGSC), on the other hand low grade serous carcinoma (LGSC) and serous borderline tumor (SBT) are rare. We experienced a case of SBT with BRCA2 germline pathogenic variants. The case is a 66-year-old woman, she was diagnosed with ovarian SBT in her 40s. However, this ovarian tumor shows strong cellular atypia and stromal reaction in pathologic findings, so she was treated in the same way as ovarian cancer. After more than 15 years, she wanted to have a genetic test of BRCA1/2, and consulted genetic department in our hospital. As a result, it was determined that she had germline pathogenic variants in BRCA2. Although there are only few studies that were investigated relation between BRCA1/2 pathogenic variants and borderline tumor of ovary, some cases with SBT had germline pathogenic variants in BRCA1/2. Therefor we should recommend a genetic counseling and genetic test of BRCA1/2 for the cases with borderline tumor of ovary.

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© 2023 The Japanese Society for Hereditary Tumors
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