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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

Yoon KH, Chae S, Kang E, Shin HC, Kim JH, Kim IA, Park SY, Kim SW, Kim EK

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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Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea

Seo JH, Jeong SY, Kim MS, Kang JH, Paik ES, Lee YY, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH

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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Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review

Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH

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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Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis

Navarro EB, López EV, Quijano Y, Caruso R, Ferri V, Durand H, Cabrera IF, Reques ED, Ielpo B, Glagolieva AY, Plaza C

BRCA gene mutations are found in up to 10% of pancreatic adenocarcinoma cases. We present a description of 4 cases along with a review of the current literature regarding pathogenesis,...
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BRCA1 and Breast Cancer: a Review of the Underlying Mechanisms Resulting in the Tissue-Specific Tumorigenesis in Mutation Carriers

Semmler L, Reiter-Brennan C, Klein A

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 DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations

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

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

Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim JH, Lee KC, Lee S, Lee JH

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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A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer

Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES

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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The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier

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

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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Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates

Helpman L, Zidan O, Friedman E, Kalfon S, Perri T, Ben-Baruch G, Korach J

OBJECTIVE: The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. METHODS: Consecutive EOC patients diagnosed at or...
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Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing

Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K, the BGI Group

OBJECTIVE: To define genetic profiling of homologous recombination (HR) deficiency in Chinese ovarian cancer patients. METHODS: we have applied next-generation sequencing to detect deleterious mutations through all exons in 31 core...
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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients

Yoon KA, Park B, Lee BI, Yang MJ, Kong SY, Lee ES

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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The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome

Lener MR, Kashyap A, Kluźniak , Cybulski C, Soluch A, Pietrzak S, Huzarski T, Gronwald J, Lubiński

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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Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers

Lee YJ, Lee SW, Kim KR, Jung KH, Lee JW, Kim YM

OBJECTIVE: Most BRCA1/2 carriers do not undergo risk-reducing salpingo-oophorectomy (RRSO) by the recommended age. This study aimed to find the incidence of precursor lesions and cancer after RRSO. METHODS: We retrospectively...
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Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)

Choi MC, Lim MC, Suh DH, Song YJ, Kim TJ, Chang SJ, Kim JW, Korean Society of Gynecologic Oncology

No abstract available.
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Molecular Portrait of the Normal Human Breast Tissue and Its Influence on Breast Carcinogenesis

Margan MM, Jitariu AA, Cimpean AM, Nica C, Raica M

Normal human breast tissue consists of epithelial and nonepithelial cells with different molecular profiles and differentiation grades. This molecular heterogeneity is known to yield abnormal clones that may contribute to...
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Uterine carcinosarcoma/malignant mixed Mullerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy

Wilson BT, Cordell HJ

No abstract available.
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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

Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH

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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Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ

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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Characteristics of BRCA1/2 Mutation-Positive Breast Cancers in Korea: A Comparison Study Based on Multicenter Data and the Korean Breast Cancer Registry

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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