Observational Study
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Oncol. Nov 24, 2019; 10(11): 358-368
Published online Nov 24, 2019. doi: 10.5306/wjco.v10.i11.358
Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer
Tarinee Manchana, Prasit Phowthongkum, Chinachote Teerapakpinyo
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.
Institutional review board statement: Institutional Review Board, Faculty of Medicine, Chulalongkorn University.
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.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
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
Telephone: +66-2-2564000 (ext. 2114) Fax: +66-2-2527376
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.