- A Study for Germline Mutation of BRCA1 in Early Onset Breast Cancer Patients
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Kim HJ, Lee JY, Lee ES, Koo BH
- KMID: 1548385
- Korean J Immunol.
- 1997 Dec;19(4):601-608.
The cumulative incidence of breast cancer in Korea is low, being about one-fifth of that in the United States. This low incidence has been mainly explained by environmental factors, and... -
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- X-linked Gene Expression Profiles by RNAi-Mediated BRCA1 Knockdown in MCF7 Cells
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Song MA, Park JH, Ahn HJ, Ko JJ, Lee S
- KMID: 2284675
- Genomics Inform.
- 2005 Dec;3(4):154-158.
Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome... -
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- The BRCA1 Expression in Placenta of Normal and Fetal Growth Restriction
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Moon JS, Jeong JH, Park CS, Yang SH, Roh JR, Song SY
- KMID: 2261402
- Korean J Obstet Gynecol.
- 1999 Jun;42(6):1260-1266.
OBJECTIVE: BRCA1, the breast and ovarian cancer susceptibility gene, is regarded as not only a tumor suppressor gene but regulator of cell growth and differentiation. We hypothesized that there is... -
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- Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1
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Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ
- KMID: 2286343
- J Breast Cancer.
- 2015 Mar;18(1):97-100.
- doi: 10.4048/jbc.2015.18.1.97
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it... -
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- BRCA1 and Breast Cancer: a Review of the Underlying Mechanisms Resulting in the Tissue-Specific Tumorigenesis in Mutation Carriers
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Semmler L, Reiter-Brennan C, Klein A
- KMID: 2441847
- J Breast Cancer.
- 2019 Mar;22(1):1-14.
- doi: 10.4048/jbc.2019.22.e6
Since the first cloning of BRCA1 in 1994, many of its cellular interactions have been elucidated. However, its highly specific role in tumorigenesis in the breast tissue—carriers of BRCA1 mutations... -
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- Expression of BRCA1 Transcripts and Protein in Sporadic Ovarian Cancer
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Park CS, Kim JK
- KMID: 2261114
- Korean J Obstet Gynecol.
- 1998 Aug;41(8):2131-2145.
Recently the breast cancer susceptibility (BRCA1) gene on chromosome 17q has been isolated and identified as a tumor supressor gene that is mutated in many cases of inherited breast and... -
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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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- DNA Damage Response Mediated through BRCA1
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Jang ER, Lee JS
- KMID: 2166134
- Cancer Res Treat.
- 2004 Aug;36(4):214-221.
The BRCA1 gene was identified and cloned in 1994 based on its linkage to early onset breast and ovarian cancer syndromes in women. The tumor suppressor, BRCA1 is known as... -
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- A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer
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Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES
- KMID: 2438999
- J Breast Cancer.
- 2017 Sep;20(3):310-313.
- doi: 10.4048/jbc.2017.20.3.310
Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history 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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- 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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- 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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- Multiple Methylator Phenotypes Involving Tumor Suppressor Genes in Ovarian Cancers
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Ryu HC, Cho CH, Kwon SH, Park JC, Seo MA, Chung SW, Rhee JH, Kim JI, Yoon SD, Cha SD
- KMID: 2143469
- Korean J Gynecol Oncol Colposc.
- 2003 Sep;14(3):229-234.
OBJECTIVE: Recent evidence suggests that aberrant methylation of CpG islands is a major pathway leading to the inactivation of tumor suppressor genes and development of cancer. The purpose of this... -
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- Germline Mutations of BRCA1 Gene in Korean Breast and/or Ovarian Cancer Families
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Won YJ, Oh JH, Huang XH, Noh DY, Choe KJ, Kang SB, Kim LS, Noh MS, Paik NS, Yang DH, Oh SM, Lee SN, Park JG
- KMID: 2059138
- J Korean Cancer Assoc.
- 1997 Oct;29(5):713-723.
PURPOSE: To understand the involvement of BRCA1 gene in Korean breast and/or ovarian cancer families. MATERIALS AND METHODS: Germline mutations of BRCA1 gene were analyzed in 13 families which included... -
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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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- Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
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Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH
- KMID: 2148505
- Cancer Res Treat.
- 2015 Jul;47(3):534-538.
- doi: 10.4143/crt.2013.151
We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a... -
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- The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome
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Lener MR, Kashyap A, Kluźniak , Cybulski C, Soluch A, Pietrzak S, Huzarski T, Gronwald J, Lubiński
- KMID: 2378115
- Cancer Res Treat.
- 2017 Apr;49(2):430-436.
- doi: 10.4143/crt.2016.217
PURPOSE: Familial pancreatic cancer describes families with at least two first-degree relatives with pancreatic cancer that do not fulfil the criteria of other inherited tumor syndromes with increased risks of... -
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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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- Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1
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Kim SH, Son WJ, Sin DJ, Chang MC
- KMID: 1464956
- J Korean Surg Soc.
- 2009 Jun;76(6):388-391.
- doi: 10.4174/jkss.2009.76.6.388
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, characterized by cafe-au-lait spot, axillary and inguinal freckle, peripheral neurofibroma and pigmented iris hamartoma. The various cancer incidences are increased in... -
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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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