- Bilateral Triple-Negative Invasive Breast Cancer with a BRCA2 Mutation, and Glioblastoma: A Case Report and Literature Review
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Raufi A, Alsharedi , Khelfa Y, Tirona M
- KMID: 2379406
- J Breast Cancer.
- 2017 Mar;20(1):108-111.
- doi: 10.4048/jbc.2017.20.1.108
Breast cancer is the second leading cause of death among women in North America. Glioblastoma is the most common primary malignant central nervous system tumor in adults. The majority of... -
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- Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
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Kim HN, Shin MH, Lee R, Park MH, Kweon SS
- KMID: 2447211
- Chonnam Med J.
- 2019 May;55(2):99-103.
- doi: 10.4068/cmj.2019.55.2.99
Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary... -
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- Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer
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Kim H, Choi DH
- KMID: 1976372
- J Breast Cancer.
- 2013 Dec;16(4):357-365.
- doi: 10.4048/jbc.2013.16.4.357
Breast cancer is the most prevalent cancer in Asian females, and the incidence of breast cancer has been increasing in Asia. Because Asian patients develop breast cancer at a younger... -
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- The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer
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Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R
- KMID: 2421374
- J Breast Cancer.
- 2018 Sep;21(3):330-333.
- doi: 10.4048/jbc.2018.21.e33
In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her... -
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- Germline Mutations and polymorphisms of BRCA1 and BRCA2 in Sporadic Ovarian Carcinoma
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Nam EJ, Kim YT, Kim SH, Kim JH, Koo JS, Kim SW, Kim JW, Kim HK
- KMID: 1594570
- Korean J Obstet Gynecol.
- 2005 Jun;48(6):1466-1475.
OBJECTIVE: Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The purposes of this study were firstly to investigate the presence of BRCA1 and BRCA2... -
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- Gene Mutations in Animal Models: Do Tumor Suppressor Genes, brca1 and brca2, Play a Role in Ovarian Carcinogenesis?
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Yi BR, Hwang KA, Choi KC
- KMID: 2114699
- Lab Anim Res.
- 2010 Dec;26(4):323-330.
- doi: 10.5625/lar.2010.26.4.323
Ovarian cancer is the most lethal cause of death from gynecological malignancies in the Western world. Over 90% of human ovarian cancers arise in the ovarian surface epithelium (OSE). The... -
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- Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient
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Oh SE, Kim SH, Kim MS, Kim MK
- KMID: 2314043
- Obstet Gynecol Sci.
- 2015 Mar;58(2):175-178.
- doi: 10.5468/ogs.2015.58.2.175
We recently experienced a case of endometrial cancer 5 years after the diagnosis of breast cancer in a patient with a mutation in the BRCA2 gene. A 55-year-old Korean woman... -
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- Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients
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Yoon KA, Park B, Lee BI, Yang MJ, Kong SY, Lee ES
- KMID: 2388308
- Cancer Res Treat.
- 2017 Jul;49(3):627-634.
- doi: 10.4143/crt.2016.292
PURPOSE: Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to... -
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- Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
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Seo JH, Jeong SY, Kim MS, Kang JH, Paik ES, Lee YY, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH
- KMID: 2462119
- Obstet Gynecol Sci.
- 2019 Nov;62(6):411-419.
- doi: 10.5468/ogs.2019.62.6.411
OBJECTIVE: BRCA 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... -
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- The Korean Hereditary Breast Cancer Study: Review and Future Perspectives
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Kang E, Kim SW
- KMID: 2286375
- J Breast Cancer.
- 2013 Sep;16(3):245-253.
- doi: 10.4048/jbc.2013.16.3.245
Most studies related to BRCA mutations have been performed in Western populations, and only a few small studies have been conducted in Korean populations. In 2007, the Korean Hereditary Breast... -
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- The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier
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Kim JY, Moon HG, Kang YJ, Han W, Noh WC, Jung Y, Moon BI, Kang E, Park SS, Lee MH, Park BY, Lee JW, Noh DY
- KMID: 2438995
- J Breast Cancer.
- 2017 Sep;20(3):279-285.
- doi: 10.4048/jbc.2017.20.3.279
PURPOSE: Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1... -
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- Characteristics of BRCA1/2 Mutation-Positive Breast Cancers in Korea: A Comparison Study Based on Multicenter Data and the Korean Breast Cancer Registry
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Yu JH, Lee JW, Son BH, Kim SW, Park SK, Lee MH, Kim LS, Noh WC, Kim EK, Yoon DS, Lee J, Jung JH, Jung SS, Gong G, Ahn SH
- KMID: 2353067
- J Breast Cancer.
- 2014 Jun;17(2):129-135.
PURPOSE: Mutations in BRCA genes are the main cause of hereditary breast cancer in Korea. The aim of this study was to investigate the characteristics of breast cancers involving BRCA1... -
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- One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling
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Lee EJ, Jeong HJ, Kim MK
- KMID: 1811010
- J Genet Med.
- 2013 Dec;10(2):124-127.
- doi: 10.5734/JGM.2013.10.2.124
Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency... -
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- Germline Mutation of BRCA2 Gene in Korean Breast / Ovarian Cancer Families
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Won YJ, Oh JH, Kim JH, Noh DY, Choe KJ, Kang SB, Kim LS, Ro MS, Paik NS, Yang DH, Oh SM, Lee SN, Kim KK, Park JG
- KMID: 2329114
- J Korean Cancer Assoc.
- 1998 Apr;30(2):242-252.
PURPOSE: Recent discovery of BRCA1 and BRCA2 genes has made it possible to perform presymptomatic diagnosis in hereditary breast/ovarian cancer families. We have previously reported germline mutations of the BRCA1... -
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- Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review
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Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH
- KMID: 2454286
- Cancer Res Treat.
- 2019 Jul;51(3):941-950.
- doi: 10.4143/crt.2018.312
PURPOSE: We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND METHODS: Two hundred seventy-nine KoOC patients were enrolled from three university hospitals... -
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- Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
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Hong WS, Kim KS, Jung YS, Kang SY, Kang DK, Kim TH, Yim H, Chun M, Park MC, Chang SJ
- KMID: 2055566
- J Genet Med.
- 2012 Jun;9(1):25-30.
- doi: 10.5734/JGM.2012.9.1.25
Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity... -
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- Contralateral Breast Cancer and Ipsilateral Breast Tumor Recurrence in BRCA1/2 Carriers and Non-Carriers at High-Risk of Hereditary Breast Cancer
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Yoon KH, Chae S, Kang E, Shin HC, Kim JH, Kim IA, Park SY, Kim SW, Kim EK
- KMID: 2470895
- J Breast Cancer.
- 2019 Dec;22(4):587-598.
- doi: 10.4048/jbc.2019.22.e47
PURPOSE: We evaluated the risk of contralateral breast cancer (CBC) and ipsilateral breast tumor recurrence (IBTR) and investigated the predictive factors for CBC and IBTR in breast cancer patients with... -
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- Korean Hereditary Breast Cancer
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Kim SW
- KMID: 2188077
- J Korean Med Assoc.
- 2009 Oct;52(10):952-962.
- doi: 10.5124/jkma.2009.52.10.952
Approximately 7% of all breast cancer cases are associated with hereditary predisposition and BRCA1 and BRCA2 gene, which accounts for half of the hereditary breast cancer (HBC). Although majority of... -
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- Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations
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Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z
- KMID: 2421370
- J Breast Cancer.
- 2018 Sep;21(3):297-305.
- doi: 10.4048/jbc.2018.21.e38
PURPOSE: The characteristic expression of DNA damage response proteins in familial breast cancers with BRCA1, BRCA2, or non-BRCA1/2 mutations has not been analyzed in Chinese patients. Our study aimed to... -
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- Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
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Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim JH, Lee KC, Lee S, Lee JH
- KMID: 2417435
- J Gynecol Oncol.
- 2018 Jul;29(4):e43.
- doi: 10.3802/jgo.2018.29.e43
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene... -
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