HBOC syndrome with an uncharacterized variant in the <em>BRCA1</em> gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report

Mabuchi,Yasushi; Hamano,Yuta; Minami,Sawako; Ota,Nami; Ino,Kazuhiko

doi:10.3892/ol.2022.13445

September-2022 Volume 24 Issue 3

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September-2022 Volume 24 Issue 3

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Case Report Open Access

HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report

Authors:
- Yasushi Mabuchi
- Yuta Hamano
- Sawako Minami
- Nami Ota
- Kazuhiko Ino
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Affiliations: Department of Obstetrics and Gynecology, Wakayama Medical University, School of Medicine, Wakayama, Wakayama 641‑0012, Japan, Department of Clinical Genetics, Wakayama Medical University, School of Medicine, Wakayama, Wakayama 641‑0012, Japan

Copyright: © Mabuchi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 325
|
Published online on: July 27, 2022

https://doi.org/10.3892/ol.2022.13445
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Abstract

The association between endometrial cancer and the BRCA1 and BRCA2 genes is not fully understood, and the risk elevation of endometrial cancer in patients with hereditary breast and ovarian cancer (HBOC) is not understood. The present report examines a rare case of HBOC syndrome and an uncharacterized variant of the BRCA1 gene in a patient diagnosed with endometrial cancer. A 46‑year‑old woman, gravida 1 para 1, was referred to Wakayama Medical University Hospital (Wakayama, Japan) because positron emission tomography/computed tomography (PET/CT) showed a high FDG uptake in the corpus uteri and the left ovary. PET/CT was performed just after mastectomy for left‑sided breast cancer (triple negative). The patient had previously undergone partial mastectomy for right‑sided breast cancer (triple negative) and was treated with radiation therapy to the right residual breast when she was 39 years old. Laparoscopic hysterectomy and bilateral adnexectomy were performed, and the histological diagnosis was endometrioid carcinoma, grade 1. Her germline BRCA status was tested by blood examination and the result was ‘NM_007294.4(BRCA1):c.49G>C (p.Ala17Pro)’. The variant was evaluated as ‘likely pathogenic’. The patient was diagnosed with HBOC syndrome and endometrial cancer, pT1ANxM0. The patient had no recurrence of breast or endometrial cancer 16 months after gynecologic surgery.

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