J Gynecol Oncol.
2021 Mar;32(2):e23. 10.3802/jgo.2021.32.e23.
Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer
- Affiliations
-
- 1Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
- 2Cancer Research Institute, College of Medicine, The Catholic University of Korea, Seoul, Korea
- 3Department of Obstetrics and Gynecology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai, China
- 4Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea
- 5Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
- KMID: 2526367
- DOI: http://doi.org/10.3802/jgo.2021.32.e23
Abstract
Objective
Familial cancer appears at a young age and its incidence is increasing. About 12% of familial ovarian cancer cases are associated with BRCA1/2 mutations (BRCAm). In this study, we investigated BRCA1 methylation may predict ovarian cancer in those with a family history of cancer (FHC) but without BRCA1/2 mutations (BRCAwt).
Methods
Using peripheral blood DNA from 55 subjects without a history of cancer [cancer(−)] and 52 ovarian cancer patients, we examined BRCA1 promoter methylation through bisulfite sequencing of the promoter and expressed the results as the cumulative methylation index. Then, we evaluated the BRCA1 promoter methylation according to BRCA1/2 germline mutations.
Results
BRCA1 methylation was more prevalent in the BRCAm cancer(−) group than in the BRCAwt cancer(−) group and ovarian cancer patients (p=0.031 and p=0.019, respectively). In the BRCAwt cancer(−) group, BRCA1 methylation was more prevalent in those with an FHC than in those without one and in the BRCAm cancer(−) group with an FHC (p=0.001 and p<0.001, respectively).
Conclusion
Our data suggest a predictive role of BRCA1 methylation profile for ovarian cancer in those without a history of cancer but with an FHC. BRCA1 methylation has important implications for diagnostic and predictive testing of those with BRCAwt cancer(−) status with FHC.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Comments on: Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer
- Multiple Methylator Phenotypes Involving Tumor Suppressor Genes in Ovarian Cancers
- Frequency of BRCA1 and BRCA2 Germline Mutations Detected by Protein Truncation Test and Cumulative Risks of Breast and Ovarian Cancer among Mutation Carriers in Japanese Breast Cancer Families
- Expression of BRCA1 Transcripts and Protein in Sporadic Ovarian Cancer
- A Study for Germline Mutation of BRCA1 in Early Onset Breast Cancer Patients
