- Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report
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Oh CS, Lee JH, Jung ST, Na BR
- KMID: 1799901
- J Korean Bone Joint Tumor Soc.
- 2014 Dec;20(2):99-103.
- doi: 10.5292/jkbjts.2014.20.2.99
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the... -
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- Family of Li-Fraumeni Syndrome with a Germline Mutation in the p53 Gene
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Shin HJ, Kwon YJ, Lim YJ, Park BK, Ghim TT, Shin SH, Kong SY, Hong EK, Park HJ
- KMID: 2168956
- Clin Pediatr Hematol Oncol.
- 2009 Apr;16(1):38-42.
Li-Fraumeni syndrome is an autosomal dominant familial cancer syndrome characterized by a diverse set of tumors, including sarcoma, breast cancer, brain tumor, adrenocortical carcinoma, and acute leukemia, affecting family members.... -
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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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- A Case of Late-Onset Li-Fraumeni-like Syndrome with Unilateral Breast Cancer
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Cho Y, Kim J, Kim Y, Jeong J, Lee KA
- KMID: 1781330
- Ann Lab Med.
- 2013 May;33(3):212-216.
- doi: 10.3343/alm.2013.33.3.212
Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include... -
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- Genetic Counseling Can Influence the Course of a Suspected Familial Cancer Syndrome Patient: From a Case of Li-Fraumeni Like Syndrome with a Germline Mutation in the TP53 Gene
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Hwang SM, Lee ES, Shin SH, Kong SY
- KMID: 1781585
- Korean J Lab Med.
- 2008 Dec;28(6):493-497.
- doi: 10.3343/kjlm.2008.28.6.493
We report a 26-yr-old female patient with bilateral breast cancer who was clinically diagnosed with Li-Fraumeni like syndrome (LFL) and subsequently found to have a germline mutation of the TP53... -
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- Clinical approach of hereditary cancer in gynecology
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Lee CH, Roh JW
- KMID: 2273653
- Korean J Obstet Gynecol.
- 2009 Jan;52(1):1-16.
Hereditary cancer syndrome is a genetic condition that causes and increases the risk for specific type of cancers. Recent advances in genetics have identified a number of genes associated with... -
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- Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes
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Michaeli O, Tabori U
- KMID: 2417357
- J Korean Neurosurg Soc.
- 2018 May;61(3):319-332.
- doi: 10.3340/jkns.2018.0031
Germline mutations in cancer causing genes result in high risk of developing cancer throughout life. These cancer predisposition syndromes (CPS) are especially prevalent in childhood brain tumors and impact both... -
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- Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
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Park KJ, Choi HJ, Suh SP, Ki CS, Kim JW
- KMID: 2373577
- Ann Lab Med.
- 2016 Sep;36(5):463-468.
- doi: 10.3343/alm.2016.36.5.463
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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- Osteosarcoma: Biologic Markers in Its Treatment
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Kim HS
- KMID: 2184738
- J Korean Med Assoc.
- 2006 Dec;49(12):1082-1087.
- doi: 10.5124/jkma.2006.49.12.1082
Osteosarcoma is a primary malignant bone tumor that accounts for 5% of childhood cancers. Despite the use of chemotherapy, long-term survival has reached a plateau, and this figure has not... -
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- Expression of Chk2 and P53 in Sporadic Breast Cancer
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Song BJ, Han SH, Kim HS, Kim CN, Chang SH, Seo YJ, Jung SS
- KMID: 2006620
- J Korean Breast Cancer Soc.
- 2003 Sep;6(3):141-147.
- doi: 10.4048/jkbcs.2003.6.3.141
PURPOSE: In response to DNA damage, Chk2 (CHEK2) is involved in cell cycle checkpoint. Chk2 is activated by the upstream ATM kinase and then directly phosphorylate p53 at serine 20.... -
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- Germline Genetic Alterations in Intraductal Papillary Neoplasms Associated with Extrapancreatic Tumors
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Ahn YJ, Jang JY, Lee SE, Hwang DW, Song YS, Cho DY, Kim SW
- KMID: 1465062
- J Korean Surg Soc.
- 2009 Apr;76(4):236-245.
- doi: 10.4174/jkss.2009.76.4.236
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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- Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
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Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW
- KMID: 2437188
- J Lab Med Qual Assur.
- 2018 Dec;40(4):199-210.
- doi: 10.15263/jlmqa.2018.40.4.199
Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance... -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)
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Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory
- KMID: 2200443
- J Lab Med Qual Assur.
- 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for... -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)
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Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service
- KMID: 2162120
- J Lab Med Qual Assur.
- 2016 Mar;38(1):22-42.
- doi: 10.15263/jlmqa.2016.38.1.22
The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated... -
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- Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)
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Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service
- KMID: 2200370
- J Lab Med Qual Assur.
- 2015 Jun;37(2):64-83.
- doi: 10.15263/jlmqa.2015.37.2.64
Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service... -
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- Erratum: Panton-Valentine Leukocidin Positive Staphylococcus aureus Isolated from Blood in Korea
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Kim JS, Park JS, Song W, Kim HS, Cho HC, Lee KM, Kim EC
- KMID: 1781586
- Korean J Lab Med.
- 2008 Dec;28(6):498-498.
- doi: 10.3343/kjlm.2008.28.6.498
This erratum is being published to correct the printing error on page 286 of the article entitled 'Panton-Valentine leukocidin positive Staphylococcus aureus isolated from blood in Korea' by Kim JS,... -
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