J Gynecol Oncol.
2020 Apr;31(3):e24. 10.3802/jgo.2020.31.e24.
BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling
- Chao A
1,2 - Lin YH1,2
- Yang LY3
- Wu RC2,4
- Chang WY3
- Chang PY5
- Chang SC5
- Lin CY1,2
- Huang HJ1,2
- Lin CT1,2
- Chou HH1,2
- Huang KG1,2
- Kuo WL6
- Chang TC1,2
- Lai CH1,2
- Affiliations
-
- 1Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University, College of Medicine, Taoyuan, Taiwan
- 2Gynecologic Cancer Research Center, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan
- 3Biostatistics Unit, Clinical Trial Center, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan
- 4Department of Pathology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, Taoyuan, Taiwan
- 5Department of Laboratory Medicine, Chang Gung Memorial Hospital, Taoyuan, Taiwan
- 6Department of General Surgery, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan
- KMID: 2500476
- DOI: http://doi.org/10.3802/jgo.2020.31.e24
Abstract
Objective
The characteristics of patients with metachronous breast and ovarian malignancies and the pathogenic role of BRCA1/2 mutations remain poorly understood. We investigated these issues through a review of hospital records and nationwide Taiwanese registry data, followed by BRCA1/2 mutation analysis in hospital-based cases.
Methods
We retrospectively retrieved consecutive clinical records of Taiwanese patients who presented with these malignancies to our hospital between 2001 and 2017. We also collected information from the Data Science Center of the Taiwan Cancer Registry (TCR) between 2007 and 2015. Next-generation sequencing and multiplex ligation-dependent probe amplification were used to identify BRCA1/2 mutations and large genomic rearrangements, respectively. When BRCA1/2 mutations were identified in index cases, pedigrees were reconstructed and genetic testing was offered to family members.
Results
A total of 12,769 patients with breast cancer and 1,537 with ovarian cancer were retrieved from our hospital records. Of them, 28 had metachronous breast and ovarian malignancies. We also identified 113 cases from the TCR dataset. Eighteen hospital-based cases underwent BRCA1/2 sequencing and germline pathogenic mutations were detected in 7 patients (38.9%, 5 in BRCA1 and 2 in BRCA2). All BRCA1/2 mutation carriers had ovarian high-grade serous carcinomas. Of the 12 patients who were alive at the time of analysis, 5 were BRCA1/2 mutation carriers. All of them had family members with BRCA1/2-associated malignancies.
Conclusions
Our results provide pilot evidence that BRCA1/2 mutations are common in Taiwanese patients with metachronous breast and ovarian malignancies, supporting the clinical utility of genetic counseling.
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