BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies
Anbok Lee 
, M.D, Ph.D., Byung-In Moon , M.D, Ph.D., and Tae Hyun Kim , M.D, Ph.D.
https://doi.org/10.3343/alm.2020.40.2.114
Most Read
-
Original Article
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea
Woori Jang, M.D., Yonggoo Kim, M.D., Eunhee Han, M.D., Joonhong Park, M.D., Hyojin Chae, M.D., Ahlm Kwon, M.T., Hayoung Choi, M.T., Jiyeon Kim, M.T., Jung-Ok Son, M.T., Sang-Jee Lee, M.D., Bo Young Hong, M.D., Dae-Hyun Jang, M.D., Ji Yoon Han, M.D., Jung Hyun Lee, M.D., So Young Kim, M.D., In Goo Lee, M.D., In Kyung Sung, M.D., Yeonsook Moon, M.D., Myungshin Kim
Ann Lab Med 2019; 39(3): 299-310 , M.D., and Joo Hyun Park, M.D.https://doi.org/10.3343/alm.2019.39.3.299
-
Review Article
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Young-Eun Kim
Ann Lab Med 2019; 39(5): 421-429 , M.D., Chang-Seok Ki , M.D., Mi-Ae Jang , M.D.https://doi.org/10.3343/alm.2019.39.5.421
-
Original Article
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
Jaeeun Yoo
Ann Lab Med 2020; 40(2): 148-154, M.D., Gun Dong Lee , M.T., Jee Hae Kim , M.T., Seung Nam Lee , M.T., Hyojin Chae , M.D., Ph.D., Eunhee Han , M.D., Ph.D., Yonggoo Kim , M.D., Ph.D., and Myungshin Kim , M.D., Ph.D.https://doi.org/10.3343/alm.2020.40.2.148
-
Letter to the Editor
Development of Crohn’s Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant
Eun Sil Kim
Ann Lab Med 2021; 41(2): 255-257, M.D., Ju Sun Song , M.D., Chang-Seok Ki , M.D., Ph.D., Yon Ho Choe , M.D., Ph.D., and Ben Kang , M.D.https://doi.org/10.3343/alm.2021.41.2.255
-
Original Article
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers
Jianyan Pan
Ann Lab Med 2021; 41(1): 101-107, Ph.D., Chunhua Zhang , Ph.D., Yanling Teng , M.S., Sijing Zeng , M.S., Siyi Chen , Ph.D., Desheng Liang , M.D., Ph.D., Zhuo Li , Ph.D., and Lingqian Wu , M.D., Ph.D.https://doi.org/10.3343/alm.2021.41.1.101
-
Original Article
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Hee-Jung Kim
Ann Lab Med 2019; 39(6): 545-551 , M.D., Soon Ki Kim , M.D., Ki-Young Yoo , M.D., Ki-O Lee , M.T., Jae Won Yun , M.D., Sun-Hee Kim , M.D., Hee-Jin Kim , M.D., and Sang Kyu Park , M.D.https://doi.org/10.3343/alm.2019.39.6.545
-
Original Article
Development and Validation of a Novel Warfarin Dosing Algorithm for Korean Patients With VKORC1 1173C
Eun Hye Cho
Ann Lab Med 2020; 40(3): 216-223, M.D., Kyunghoon Lee , M.D., Mina Yang , M.D., Rihwa Choi , M.D., Sun-Young Baek , M.S., Insuk Sohn , Ph.D., June Soo Kim , M.D., Young Keun On , M.D., Oh Young Bang , M.D., Hyun-Jung Cho , M.D., and Soo-Youn Lee , M.D.https://doi.org/10.3343/alm.2020.40.3.216
-
Original Article
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
Ju Sun Song
Ann Lab Med 2020; 40(3): 224-231, M.D., Amel Bahloul , Ph.D., Christine Petit , M.D., Ph.D., Sang Jin Kim , M.D., Ph.D., Il Joon Moon , M.D., Ph.D., Jinhyuk Lee , Ph.D., and Change-Seok Ki , M.D., Ph.D.https://doi.org/10.3343/alm.2020.40.3.224
-
Brief Communication
Performance Evaluation of the QXDx BCR-ABL %IS Droplet Digital PCR Assay
Hee-Jung Chung
Ann Lab Med 2020; 40(1): 72-75, M.D., Mina Hur , M.D., Ph.D., Sumi Yoon , M.D., Keumrock Hwang , M.D., Ph.D., Hwan-Sub Lim , M.D., Ph.D., Hanah Kim , M.D., Ph.D., Hee-Won Moon , M.D., Ph.D., and Yeo-Min Yun , M.D., Ph.D.https://doi.org/10.3343/alm.2020.40.1.72
Full Text
PDF
Pubmed
PMC
