- A Korean Family of Familial Medullary Thyroid Cancer with Cys618Ser RET Germline Mutation
-
Jung J, Uchino S, Lee Y, Park H
- KMID: 1779251
- J Korean Med Sci.
- 2010 Feb;25(2):226-229.
- doi: 10.3346/jkms.2010.25.2.226
Familial medullary thyroid carcinoma (FMTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. An identifiable RET mutation can be detected in about 85% of FMTC families. The... -
- CITED
-
- Close
- SHARE
-
- Close
- Erratum: Panton-Valentine Leukocidin Positive Staphylococcus aureus Isolated from Blood in Korea
-
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,... -
- CITED
-
- Close
- SHARE
-
- Close
- 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
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- 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
- KMID: 2413427
- J Gynecol Oncol.
- 2017 Jul;28(4):e39.
- doi: 10.3802/jgo.2017.28.e39
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
-
Cho HJ, Ki CS, Kim JW
- KMID: 1794410
- J Korean Med Sci.
- 2009 Feb;24(1):77-83.
- doi: 10.3346/jkms.2009.24.1.77
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and... -
- CITED
-
- Close
- SHARE
-
- Close
