Tarinee Manchana, Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand
Prasit Phowthongkum, Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Chulalongkorn University and Medical Genetics Center, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand
Chinachote Teerapakpinyo, Chulalongkorn GenePRO Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
Author contributions: Manchana T designed the research study, collected and analyzed the data and wrote the paper; Phowthongkum P provided genetic counseling, interpreted the genetic database and wrote the paper; Teerapakpinyo C performed germline mutation analysis and interpreted the genetic database.
Informed consent statement: All study participants provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors have no conflict of interest.
STROBE statement: The authors have read the STROBE Statement-checklist of items, and the manuscript was prepared and revised according to the STROBE Statement-checklist of items.
Corresponding author: Tarinee Manchana, MD, Associate Professor, Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, 1873, Rama IV Road, Patumwan, Bangkok 10330, Thailand. tarinee.m@chula.ac.th
Received: March 2, 2019 Peer-review started: March 4, 2019 First decision: April 11, 2019 Revised: August 13, 2019 Accepted: November 4, 2019 Article in press: November 4, 2019 Published online: November 24, 2019 Processing time: 270 Days and 21.9 Hours
Core Tip
Core tip: Germline mutations could not be detected in any epithelial ovarian cancer patients without risk factors such as age below 40 years, significant family or personal history of cancer, and high-grade serous subtype. Mutations were detected in approximately one-third of patients with these risk factors: 25% had BRCA1/2 mutations, 5% had mutations in other homologous recombination genes, and 2.5% had MMR mutations. Significantly more germline mutations were found in patients with a family history of cancer, especially ovarian cancer. Germline BRCA mutations were detected in 38.8% of patients with the high-grade serous subtype but in only 1.6% of those with a non-high-grade serous subtype. Selected patients with the high-grade serous subtype or a significant family history of cancer should initially be considered for genetic analysis in limited resource settings.
