- Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene
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Min JW, Park YJ, Kim HJ, Chang MC
- KMID: 2212221
- J Korean Surg Soc.
- 2012 Mar;82(3):185-189.
- doi: 10.4174/jkss.2012.82.3.185
About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma... -
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- Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate
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Baek C, Jung JM, Lim YJ, Kim KH, Yu HW, Kim GH, Chung ML
- KMID: 2312979
- Neonatal Med.
- 2015 Aug;22(3):162-167.
- doi: 10.5385/nm.2015.22.3.162
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disease that primarily manifests as sleep-associated respiratory insufficiency and a markedly impaired ventilatory response to hypercarbia and hypoxemia. Paired-like homeobox 2b (PHOX2B)... -
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- The first documentation of Li-Fraumeni syndrome in Korea
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Bang YJ, Kang SH, Kim TY, Jung CW, Oh SM, Choe KJ, Kim NK
- KMID: 1054346
- J Korean Med Sci.
- 1995 Jun;10(3):205-210.
- doi: 10.3346/jkms.1995.10.3.205
Li-Fraumeni syndrome(LFS) is an autosomal dominant disorder that predisposes individuals to multiple forms of cancer including breast cancer, soft tissue sarcoma, brain tumor, osteosarcoma, leukemia, and adrenocortical carcinoma. Recently, germ-line... -
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- One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding
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Kim HJ, Park JM, Lee HW, Lee EH, Kim MK
- KMID: 2381323
- Korean J Pathol.
- 2014 Oct;48(5):379-381.
- doi: 10.4132/KoreanJPathol.2014.48.5.379
No abstract available. -
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- Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
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Lee SC, Min JW, Kim YM, Chang MC
- KMID: 1709075
- Korean J Endocr Surg.
- 2014 Mar;14(1):7-11.
PURPOSE: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to summarize the characteristics of germline... -
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- Hypothesis: Somatic Mosaicism and Parkinson Disease
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Kim HJ, Jeon BS
- KMID: 2165533
- Exp Neurobiol.
- 2014 Dec;23(4):271-276.
- doi: 10.5607/en.2014.23.4.271
Mutations causing genetic disorders can occur during mitotic cell division after fertilization, which is called somatic mutations. This leads to somatic mosaicism, where two or more genetically distinct cells are... -
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- Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
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Lee D, Jang JH, Lee CG
- KMID: 2451624
- J Genet Med.
- 2019 Jun;16(1):27-30.
- doi: 10.5734/JGM.2019.16.1.27
Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It... -
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- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
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Lee CG, Jang JH, Seo JY
- KMID: 2468728
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):253-256.
- doi: 10.6065/apem.2019.24.4.253
Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most... -
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- Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
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Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH
- KMID: 2378227
- J Menopausal Med.
- 2017 Apr;23(1):69-73.
- doi: 10.6118/jmm.2017.23.1.69
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of... -
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- A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene
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Kim HY, Lee JY, Kim SB, Lee KW, Seo JA, Oh JH, Kim SG, Choi KM, Baik SH, Choi DS, Kim NH
- KMID: 2331186
- J Korean Soc Endocrinol.
- 2003 Oct;18(5):481-488.
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are... -
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- A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
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Kim YM, Kim MK
- KMID: 2327705
- J Genet Med.
- 2016 Jun;13(1):55-58.
- doi: 10.5734/JGM.2016.13.1.55
Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant... -
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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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- A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation
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Yoon SB, Park CK, Kang MK, Lee SJ, Han DH, Ki CS, Kim YK
- KMID: 2263952
- Korean J Med.
- 2011 Jul;81(1):102-106.
Birt-Hogg-Dube (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous... -
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- Hereditary Colorectal Cancer
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Park JG, Kim IJ
- KMID: 2439741
- Korean J Gastroenterol.
- 2005 Feb;45(2):78-87.
Hereditary syndromes cause approximately 5 to 15% of overall colorectal cancer (CRC) cases. Hereditary CRC is conventionally divided into two major categories: hereditary non-polyposis colorectal cancer (HNPCC) and those related... -
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- A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases
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Jahng J, Yoon SJ, Park H
- KMID: 2053526
- Gut Liver.
- 2013 Jan;7(1):120-125.
Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis with fewer than one hundred colorectal polyps and a later age of onset of the cancer. Here, we... -
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- Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation
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Yang MA, Lee WK, Shin HS, Park SH, Kim BS, Kim JW, Cho JW, Yun SH
- KMID: 2383412
- Korean J Gastroenterol.
- 2017 Mar;69(3):181-186.
- doi: 10.4166/kjg.2017.69.3.181
Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the... -
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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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- Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review
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Song WH, Kim SH, Joung JY, Park WS, Seo HK, Chung J, Lee KH
- KMID: 2364186
- J Korean Med Sci.
- 2017 Feb;32(2):377-381.
- doi: 10.3346/jkms.2017.32.2.377
One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring... -
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- The Characteristics of Multiple Endocrine Neoplasia in Korean
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Yang JH, Woo SU
- KMID: 2375964
- Korean J Endocr Surg.
- 2005 Jun;5(1):1-6.
- doi: 10.16956/kjes.2005.5.1.1
PURPOSE: Multiple Endocrine Neoplasm (MEN) is a rare, complex and familial disease. There are MEN syndromes are inherited in an autosomal dominant fashion with high penetrance. The variations in the... -
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- A Case of Concurrent Papillary Thyroid Carcinoma in Familial Medullary Thyroid Microcarcinoma with a Germline C634W Mutation
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Kim JH, Park JH, Park TS, Baek HS, Chung MJ, Hong KH
- KMID: 1497762
- Endocrinol Metab.
- 2010 Dec;25(4):354-359.
- doi: 10.3803/EnM.2010.25.4.354
The origins of medullary carcinoma (MTC) and papillary carcinoma (PTC) of the thyroid are embryologically different. Tumors showing concurrent medullary and papillary features are rare and they represent less than... -
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