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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

Shin HC, Lee HB, Yoo TK, Lee ES, Kim RN, Park B, Yoon KA, Park C, Lee ES, Moon HG, Noh DY, Kong SY, Han W

Purpose Hereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an nextgeneration sequencing (NGS)–based multiple-gene panel...
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Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

Park KJ, Choi HJ, Suh SP, Ki CS, Kim JW

BACKGROUND: Little is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea...
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A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation

Choi YS, Kwon HJ, Kim BK, Kwon SK, Park YH, Kim JH, Jung SB, Lee CH, Lee SK, Uchino S

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in...
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Characteristics of the RET Oncogene Germline Mutations in Korean Medullary Thyroid Carcinoma: A Literature Review

Sin DJ, Min JW, Chang MC

PURPOSE: Germline mutation of the RET oncogene results in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid cancer (FMTC). We reviewed the literature to determine the...
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Germline Genetic Alterations in Intraductal Papillary Neoplasms Associated with Extrapancreatic Tumors

Ahn YJ, Jang JY, Lee SE, Hwang DW, Song YS, Cho DY, Kim SW

PURPOSE: IPMN (Intraductal papillary mucinous neoplasm) is frequently reported in combination with a variety of extrapancreatic tumors. The IPMN in these patients might represent the phenotypes of genes associated with...
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A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation

Seo JH, Yang JH, Choi PL, Kim YL, Choi YS, Park YH, Ko JH, Kang HC, Kim IJ, Park JG

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development...
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Germline Mutations and polymorphisms of BRCA1 and BRCA2 in Sporadic Ovarian Carcinoma

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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A Case of Multiple Endocrine Neoplasia Associated with VIPoma

Lee SW, Choi YS, Park YH, Oh KS, Shin JW, Kim IJ, Uchino S

Multiple endocrine neoplasia I(MEN I) is a genetic disorder that consists of neoplasia of neuroendocrine type in the parathyroid glands, in the islets of Langerhans in the pancreas, and in...
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De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B

  • KMID: 1097259
  • Exp Mol Med.
  • 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic...
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Frequency of BRCA1 and BRCA2 Germline Mutations Detected by Protein Truncation Test and Cumulative Risks of Breast and Ovarian Cancer among Mutation Carriers in Japanese Breast Cancer Families

Ikeda N, Miyoshi Y, Ikeda N, Yoneda K, Kinoshita , Noguchi S

The purpose of this investigation is to study the frequency and penetrance of BRCA1 and BRCA2 germline mutations in Japanese familial breast cancer patients. Mutation analysis of BRCA1 and BRCA2...
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Germline Mutations of the NF2 Gene in Korean Neurofibromatosis 2 Patient

Yang HJ, Won YJ, Park KJ, Jung HW, Choi KS, Park JG

  • KMID: 2006873
  • J Korean Cancer Assoc.
  • 1998 Aug;30(4):790-799.
PURPOSE: Neurofibromatosis 2(NF2) is an autosomal dominant disease characterized by development of bilateral acoustic neuroma and various central nervous system tumors such as meningiomas, ependymomas, and schwannomas. Recent cloning of...
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Germline Mutation of BRCA2 Gene in Korean Breast / Ovarian Cancer Families

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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A Study for Germline Mutation of BRCA1 in Early Onset Breast Cancer Patients

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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