Seksit Chirasophon1, Tarinee Manchana2, Chinachote Teerapakpinyo3. 1. Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. 2. Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand. 3. Chulalongkorn GenePRO Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Abstract
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma. Germline mutation was evaluated by Next Generation Sequencing system with the 27-genes panel. RESULTS: A total of 94 patients (28.1%) were high-risk patients, 5.1% had significant family history of cancers, 4.2% had synchronous primary cancers, and 22.1% had high-grade serous carcinoma. Germline mutation was detected in 10 of 35 patients (28.6%). Six germline mutations (17.1%) occurred in homologous recombination (HR) genes; these included three (8.6%) in BRCA1, one (2.9%) in BRCA2, and two (5.7%) in other HR genes (CHEK2 and RAD1C). Three patients (8.6%) had MMR gene mutations (one MLH1 and two MSH2) and one patient (2.9%) had other gene mutation (MUTYH). Of the 10 patients with germline mutation, 40% of patients had no significant family history of cancer. CONCLUSION: Up to 30% of EOC patients had risk factors for hereditary ovarian cancer. Germline mutation was identified in 28.6% of patients (11.4% BRCA mutation, 5.7% other HR genes mutation, 8.6% MMR mutation, and 2.9% mutation in other gene). The high cost of genetic testing is an important barrier. Selected patients with high-risk factors might be initially considered for genetic testing in a limited-resource setting.
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma. Germline mutation was evaluated by Next Generation Sequencing system with the 27-genes panel. RESULTS: A total of 94 patients (28.1%) were high-risk patients, 5.1% had significant family history of cancers, 4.2% had synchronous primary cancers, and 22.1% had high-grade serous carcinoma. Germline mutation was detected in 10 of 35 patients (28.6%). Six germline mutations (17.1%) occurred in homologous recombination (HR) genes; these included three (8.6%) in BRCA1, one (2.9%) in BRCA2, and two (5.7%) in other HR genes (CHEK2 and RAD1C). Three patients (8.6%) had MMR gene mutations (one MLH1 and two MSH2) and one patient (2.9%) had other gene mutation (MUTYH). Of the 10 patients with germline mutation, 40% of patients had no significant family history of cancer. CONCLUSION: Up to 30% of EOC patients had risk factors for hereditary ovarian cancer. Germline mutation was identified in 28.6% of patients (11.4% BRCA mutation, 5.7% other HR genes mutation, 8.6% MMR mutation, and 2.9% mutation in other gene). The high cost of genetic testing is an important barrier. Selected patients with high-risk factors might be initially considered for genetic testing in a limited-resource setting.
Authors: Sidrah Shah; Alison Cheung; Mikolaj Kutka; Matin Sheriff; Stergios Boussios Journal: Int J Environ Res Public Health Date: 2022-07-01 Impact factor: 4.614