Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea

ObjectiveBRCA mutational status is important in the management of ovarian cancer, but there is a lack of evidence supporting genetic testing in Asian populations. This study was performed to investigate the prevalence and prognostic outcomes of BRCA1/2 mutation and variant of unknown significance (V...

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Main Authors: 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
Format: Article
Language:English
Published: Korean Society of Obstetrics and Gynecology 2019-11-01
Series:Obstetrics & Gynecology Science
Subjects:
Online Access:http://ogscience.org/upload/pdf/ogs-62-411.pdf
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author 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
author_facet 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
author_sort Jun Hyeong Seo
collection DOAJ
description ObjectiveBRCA mutational status is important in the management of ovarian cancer, but there is a lack of evidence supporting genetic testing in Asian populations. This study was performed to investigate the prevalence and prognostic outcomes of BRCA1/2 mutation and variant of unknown significance (VUS) in Korean patients diagnosed with epithelial ovarian cancer (EOC).MethodsAmong patients newly diagnosed with EOC between January 2007 and January 2017, those tested for germline BRCA1/2 mutation were studied, regardless of family history. Overall survival (OS) and progression-free survival (PFS) were compared between the patients with and without BRCA1/2 mutation and VUS.ResultsA total of 313 patients underwent BRCA testing: 88 patients had a BRCA1/2 mutation and 48 patients had a BRCA1/2 VUS (28.1% and 15.3%, respectively). There were no significant associations between BRCA1/2 mutation, BRCA1/2 wild-type, or BRCA1/2 VUS with age at diagnosis, histologic distribution, or residual disease status after primary cytoreductive surgery. BRCA1 mutation, including BRCA1 VUS, showed no difference in PFS or OS compared to BRCA1 wild-type. In contrast, BRCA2 mutation showed longer PFS than that of BRCA2 wild-type (P=0.04) or BRCA2 VUS (P=0.02). BRCA2 mutation, including BRCA2 VUS, did not show any difference in OS compared to BRCA2 wild-type.ConclusionBRCA mutation and BRCA VUS had similar clinical characteristics and survival outcomes, except that BRCA2 mutation showed better PFS. The results of this study will help to understand the prognostic significance of BRCA mutation and VUS in Korean patients.
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spelling doaj.art-72103211262b4404b9465cb84b76dbd72022-12-21T23:38:53ZengKorean Society of Obstetrics and GynecologyObstetrics & Gynecology Science2287-85722287-85802019-11-0162641141910.5468/ogs.2019.62.6.411607Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in KoreaJun Hyeong Seo0Soo Young Jeong1Myeong Seon Kim2Jun Hyeok Kang3E Sun Paik4Yoo-Young Lee5Tae-Joong Kim6Jeong-Won Lee7Byoung-Gie Kim8Duk-Soo Bae9Chel Hun Choi10Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaDepartment of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, .KoreaObjectiveBRCA mutational status is important in the management of ovarian cancer, but there is a lack of evidence supporting genetic testing in Asian populations. This study was performed to investigate the prevalence and prognostic outcomes of BRCA1/2 mutation and variant of unknown significance (VUS) in Korean patients diagnosed with epithelial ovarian cancer (EOC).MethodsAmong patients newly diagnosed with EOC between January 2007 and January 2017, those tested for germline BRCA1/2 mutation were studied, regardless of family history. Overall survival (OS) and progression-free survival (PFS) were compared between the patients with and without BRCA1/2 mutation and VUS.ResultsA total of 313 patients underwent BRCA testing: 88 patients had a BRCA1/2 mutation and 48 patients had a BRCA1/2 VUS (28.1% and 15.3%, respectively). There were no significant associations between BRCA1/2 mutation, BRCA1/2 wild-type, or BRCA1/2 VUS with age at diagnosis, histologic distribution, or residual disease status after primary cytoreductive surgery. BRCA1 mutation, including BRCA1 VUS, showed no difference in PFS or OS compared to BRCA1 wild-type. In contrast, BRCA2 mutation showed longer PFS than that of BRCA2 wild-type (P=0.04) or BRCA2 VUS (P=0.02). BRCA2 mutation, including BRCA2 VUS, did not show any difference in OS compared to BRCA2 wild-type.ConclusionBRCA mutation and BRCA VUS had similar clinical characteristics and survival outcomes, except that BRCA2 mutation showed better PFS. The results of this study will help to understand the prognostic significance of BRCA mutation and VUS in Korean patients.http://ogscience.org/upload/pdf/ogs-62-411.pdf gene genevariant of unknown significanceepithelial ovarian cancer
spellingShingle 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
Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
Obstetrics & Gynecology Science
gene
gene
variant of unknown significance
epithelial ovarian cancer
title Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
title_full Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
title_fullStr Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
title_full_unstemmed Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
title_short Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
title_sort prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in korea
topic gene
gene
variant of unknown significance
epithelial ovarian cancer
url http://ogscience.org/upload/pdf/ogs-62-411.pdf
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