-
Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
-
Kyung Jin Eoh, Hyung Seok Park, Ji Soo Park, Seung-Tae Lee, Jeongwoo Han, Jung-Yun Lee, Sang Wun Kim, Sunghoon Kim, Young Tae Kim, Eun Ji Nam
-
Cancer Res Treat. 2017;49(2):408-415. Published online July 27, 2016
-
DOI: https://doi.org/10.4143/crt.2016.135
-
-
 Abstract
 PDF PubReader ePub
- Purpose
The purpose of this study was to investigate the clinical features of epithelial ovarian cancer (EOC) patients according to BRCA1/2 mutation status (mutation, variant of uncertain significance [VUS], or wild type).
Materials and Methods
We analyzed 116 patients whose BRCA1/2 genetic test results were available for mutation type and clinical features, including progression-free survival (PFS), overall survival (OS), and response rate. These characteristics were compared according to BRCA1/2 mutation status.
Results
Thirty-seven (37/116, 31.9%) BRCA1/2 mutations were identified (BRCA1, 30; BRCA2, 7). Mutation of c.3627_3628insA (p.Leu1209_Glu1210?fs) in BRCA1 was observed in five patients (5/37, 13.5%). Twenty-five patients had BRCA1/2 VUSs (25/116, 21.6%). Personal histories of breast cancer were observed in 48.6% of patients with BRCA1/2 mutation (18/37), 16.0% of patients with BRCA1/2 VUS (4/25), and 7.4% of patients with BRCA wild type (4/54) (p < 0.001). Patients with BRCA1/2 mutation showed longer OS than those with BRCA1/2 wild type (p=0.005). No significant differences were detected in PFS, OS, or response rates between patients with BRCA1/2 VUS and BRCA1/2 mutation (p=0.772, p=0.459, and p=0.898, respectively).
Conclusion
Patientswith BRCA1/2 mutation had longer OS than thosewith BRCA1/2wild type. Patients with BRCA1/2 mutation and BRCA1/2 VUS displayed similar prognoses.
-
Citations
Citations to this article as recorded by  - Impact of molecular testing on the surgical management of advanced epithelial ovarian cancer
Pierre-Emmanuel Colombo, Christophe Taoum, Michel Fabbro, Stanislas Quesada, Philippe Rouanet, Isabelle Ray-Coquard
Critical Reviews in Oncology/Hematology.2024; 202: 104469. CrossRef - The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study
Dinh-Toi Chu, Mai Vu Ngoc Suong, Hue Vu Thi, Thuy-Duong Vu, Manh-Hung Nguyen, Vijai Singh
Expert Review of Molecular Diagnostics.2023; 23(1): 53. CrossRef - Survival outcomes in patients withBRCAmutated, variant of unknown significance, and wild type ovarian cancer treated with PARP inhibitors
Lucia Musacchio, Serena Boccia, Claudia Marchetti, Angelo Minucci, Floriana Camarda, Chiara Cassani, Jole Ventriglia, Vanda Salutari, Viola Ghizzoni, Elena Giudice, Maria Teresa Perri, Maria Vittoria Carbone, Caterina Ricci, Sandro Pignata, Anna Fagotti,
International Journal of Gynecologic Cancer.2023; 33(6): 922. CrossRef - Modeling human cancer predisposition syndromes using CRISPR/Cas9 in human cell line models
Garrett M. Draper, Daniel J. Panken, David A. Largaespada
Genes, Chromosomes and Cancer.2023; 62(9): 493. CrossRef - Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma
Brooke B. Bartow, Gene P. Siegal, Ceren Yalniz, Ahmed M. Elkhanany, Lei Huo, Qingqing Ding, Aysegul A. Sahin, Hua Guo, Cristina Magi-Galluzzi, Shuko Harada, Xiao Huang
Cancers.2023; 15(9): 2524. CrossRef - Factors predictingBRCA1/2pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis
Giovanni Innella, Lea Godino, Giulia Erini, Antonio De Leo, Donatella Santini, Anna Myriam Perrone, Pierandrea De Iaco, Claudio Zamagni, Daniela Turchetti
Journal of Clinical Pathology.2023; 76(8): 510. CrossRef - Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta‐analysis
Yazhuo Wang, Na Li, Yanan Ren, Jing Zhao
Journal of Obstetrics and Gynaecology Research.2022; 48(9): 2270. CrossRef - Recurrent Ovarian Cancer with BRCAness Phenotype: A Treatment Challenge
Cláudia Caeiro, Inês Leão, Inês Oliveira, Isabel Sousa, Teresa André
Advances in Therapy.2022; 39(11): 5289. CrossRef - Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients
Giorgia Gurioli, Gianluca Tedaldi, Alberto Farolfi, Elisabetta Petracci, Claudia Casanova, Giuseppe Comerci, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Daniele Calistri, Valentina Zampiga, Ilaria Cangini, Eugenio Fonzi, Alessandra Virga, Davide Tas
International Journal of Molecular Sciences.2022; 23(24): 15789. CrossRef - Implementation of Comprehensive Genomic Profiling in Ovarian Cancer Patients: A Retrospective Analysis
Shira Peleg Hasson, Dov Hershkovitz, Lyri Adar, Miriam Brezis, Eliya Shachar, Rona Aks, Lee Galmor, Yuval Raviv, Shira Ben Neriah, Ofer Merimsky, Edmond Sabo, Ido Wolf, Tamar Safra
Cancers.2022; 15(1): 218. CrossRef - Current update on malignant epithelial ovarian tumors
Sherif B. Elsherif, Priya R. Bhosale, Chandana Lall, Christine O. Menias, Malak Itani, Kristina A. Butler, Dhakshinamoorthy Ganeshan
Abdominal Radiology.2021; 46(6): 2264. CrossRef - Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer
Kyung Jin Eoh, Hye Min Kim, Jung-Yun Lee, Sunghoon Kim, Sang Wun Kim, Young Tae Kim, Eun Ji Nam
BMC Cancer.2020;[Epub] CrossRef - Association of Germline Variants in Human DNA Damage Repair Genes and Response to Adjuvant Chemotherapy in Resected Pancreatic Ductal Adenocarcinoma
Haijie Hu, Yayun Zhu, Ning Pu, Richard A. Burkhart, William Burns, Daniel Laheru, Lei Zheng, Jin He, Michael G. Goggins, Jun Yu
Journal of the American College of Surgeons.2020; 231(5): 527. CrossRef - Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers
Hyeong In Ha, Jin-Sun Ryu, Hyoeun Shim, Sun-Young Kong, Myong Cheol Lim
Journal of Gynecologic Oncology.2020;[Epub] CrossRef - Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts
Anastasis Oulas, George Minadakis, Margarita Zachariou, George M. Spyrou
Scientific Reports.2019;[Epub] CrossRef - Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer
Se Ik Kim, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song
Journal of Ovarian Research.2019;[Epub] CrossRef - Clinical significance of variants of unknown significances in BRCA genes
Min Chul Choi
Journal of Gynecologic Oncology.2019;[Epub] CrossRef - DNA damage response and repair in ovarian cancer: Potential targets for therapeutic strategies
Mohammad Mirza-Aghazadeh-Attari, Caspian Ostadian, Amir Ata Saei, Ainaz Mihanfar, Saber Ghazizadeh Darband, Shirin Sadighparvar, Mojtaba Kaviani, Hossein Samadi Kafil, Bahman Yousefi, Maryam Majidinia
DNA Repair.2019; 80: 59. CrossRef - Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review
Byung Su Kwon, Jung Mi Byun, Hyun Joo Lee, Dae Hoon Jeong, Tae Hwa Lee, Kyung-Hwa Shin, Dong Soo Suh, Ki Hyung Kim
Cancer Research and Treatment.2019; 51(3): 941. CrossRef - Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
Jun Hyeong Seo, Soo Young Jeong, Myeong Seon Kim, Jun Hyeok Kang, E Sun Paik, Yoo-Young Lee, Tae-Joong Kim, Jeong-Won Lee, Byoung-Gie Kim, Duk-Soo Bae, Chel Hun Choi
Obstetrics & Gynecology Science.2019; 62(6): 411. CrossRef - Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer
Min Chul Choi, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Je Ho Lee
International Journal of Gynecological Cancer.2018; 28(2): 308. CrossRef - Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
Min Chul Choi, Jin-Sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji-Ho Kim, Ki-Chan Lee, Sunghoon Lee, Je Ho Lee
Journal of Gynecologic Oncology.2018;[Epub] CrossRef - Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2
Kyung Jin Eoh, Ji Eun Kim, Hyung Seok Park, Seung-Tae Lee, Ji Soo Park, Jung Woo Han, Jung-Yun Lee, Sunghoon Kim, Sang Wun Kim, Jae Hoon Kim, Young Tae Kim, Eun Ji Nam
Cancer Research and Treatment.2018; 50(3): 917. CrossRef - ATL
Xinxin Zhu, Ling Zhao, Jinghe Lang
International Journal of Gynecologic Cancer.2018; 28(8): 1514. CrossRef - BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic‐related mutations in BRCA1 associated with an increased risk of ovarian cancer
Tingyan Shi, Pan Wang, Caixia Xie, Sheng Yin, Di Shi, Congchong Wei, Wenbin Tang, Rong Jiang, Xi Cheng, Qingyi Wei, Qing Wang, Rongyu Zang
International Journal of Cancer.2017; 140(9): 2051. CrossRef - Role and clinical application of next-generation sequencing (NGS) for ovarian cancer
Myong Cheol Lim, Leslie M. Randall
Journal of Gynecologic Oncology.2017;[Epub] CrossRef
-
12,394
View
-
448
Download
-
28
Web of Science
-
26
Crossref
|
KCA
