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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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Development of an Automated Image Analyzer for Microvessel Density Measurement in Bone Marrow Biopsies

Chung Y, Shin S, Shim H, Sohn JY, Lee DE, Lee H, Eom HS, Kim KG, Kong SY

Angiogenesis is important for the proliferation and survival of multiple myeloma (MM) cells. Bone marrow (BM) microvessel density (MVD) is a useful marker of angiogenesis and an increase in MVD...
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Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea

Kim J, Kong SY, Han SH, Kim JW, Jeon CH, Yoo J

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by...
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Outcomes of Pregnancy after Breast Cancer in Korean Women:A Large Cohort Study

Lee MH, Kim YA, Hong JH, Jung SY, Lee S, Kong SY, Park B, Lee ES

Purpose The purpose of this study was to determine the rate and outcomes of pregnancies subsequent to breast cancer in Korea, and the effect of such pregnancies on the prognosis of women who...
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Views on Precision Medicine among Health Professionals in Korea: A Mixed Methods Study

Cho HN, Shin SY, Hwangbo B, Chang YJ, Cho J, Kong SY, Choi KS, Lee ES

This study aimed to investigate awareness, attitudes, and perspectives on precision medicine among health professionals in Korea and to identify issues that need to be addressed before implementing precision medicine....
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Revision of Laboratory Testing Guidelines for Initial Diagnosis of Hematologic Neoplasms

Kim IS, Lee JY, Kong SY, Lee ST, Huh J, Nam MH, Kim M, Cho YU, Huh HJ, Song J, Park H

The standardization committee of the Korean Society for Laboratory Hematology revised laboratory testing guidelines in order that hematologic neoplasms could be diagnosed according to the revised 4th edition of WHO...
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Recommendation for the Peripheral Blood Cell Morphology Report

Kwon JA, Kim YG, Park G, Kim JM, Cho YU, Huh J, Kong SY, Han JY, Yoon SY

There is considerable heterogeneity in the peripheral blood smear reports across different diagnostic laboratories, despite following the guidelines published by the International Council for Standardization in Haematology (ICSH). As standardization...
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Interaction Effect Between Breast Density and Reproductive Factors on Breast Cancer Risk in Korean Population

Lim SE, Ahn H, Lee ES, Kong SY, Jung SY, Lee S, Kang HS, Lee EG, Han JH, Park B

BACKGROUND: This study was conducted to explore the effect of known risk factors, focusing on risk factors including age at menarche, age at menopause, number of children, family history of...
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T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia

Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, Cho EH, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H

BACKGROUND: Chromosomal abnormalities and common genetic rearrangements related to T-acute lymphoblastic leukemia (T-ALL) are not clear. We investigated T-cell receptor (TCR) rearrangement in Korean T-ALL patients by fragment analysis, examining...
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Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment

Yoon KA, Woo SM, Kim YH, Kong SY, Lee MK, Han SS, Kim TH, Lee WJ, Park SJ

BACKGROUND/AIMS: Pancreatic ductal adenocarcinoma (PDA) is associated with an extremely poor prognosis. This study assessed the genetic diversity among patients with PDA and compared their mutational profiles before and after...
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Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers

Lee EG, Kang HJ, Lim MC, Park B, Park SJ, Jung SY, Lee S, Kang HS, Park SY, Park B, Joo J, Han JH, Kong SY, Lee ES

PURPOSE: The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a...
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Psychosocial Health of Disease-Free Breast Cancer Survivors Compared with Matched Non-cancer Controls

Park B, Lee MH, Kong SY, Lee ES

PURPOSE: The present study investigated the psychosocial health of disease-free breast cancer survivors who receive health examinations compared to matched non-cancer controls in a community setting. MATERIALS AND METHODS: We used...
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Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

Lee K, Jang JH, Lee ST, Yoon KA, Lee ES, Kim JW, Kong SY

BACKGROUND: The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014. METHODS: A structured questionnaire was provided to the specialist in charge...
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Delphi study to achieve consensus for the development strategies of emergency medical services system preparing for reunification of Korea

Park GJ, Lee KW, Kong SY, Ahn KO, Wi DH, Ro YS, Shin SD

OBJECTIVE: This study aimed to achieve expert consensus for the development of strategies emergency medical services system (EMSS) after reunification of Korean using the Delphi method. METHODS: The Delphi study was...
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Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms

Lee E, Lee KJ, Park H, Chung JY, Lee MN, Chang MH, Yoo J, Lee H, Kong SY, Eom HS

BACKGROUND: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and...
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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer

Yoon KA, Woo SM, Kim YH, Kong SY, Han SS, Park SJ, Lee WJ

Biliary tract cancer (BTC) is a rare cancer and is associated with a poor prognosis. To understand the genetic characteristics of BTC, we analyzed whole-exome sequencing data and identified somatic...
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A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer

Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES

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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Chromothripsis in Treatment Resistance in Multiple Myeloma

Lee KJ, Lee KH, Yoon KA, Sohn JY, Lee E, Lee H, Eom HS, Kong SY

Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. Recently, the term...
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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients

Yoon KA, Park B, Lee BI, Yang MJ, Kong SY, Lee ES

PURPOSE: Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to...
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Comparison of Two Apheresis Systems of COBE and Optia for Autologous Peripheral Blood Stem Cell Collection

Lee SN, Sohn JY, Kong JH, Eom HS, Lee H, Kong SY

Peripheral blood stem cell (PBSC) transplantation following myeloablative therapy is a mainstay of treatment for various types of malignancies. This study aimed to evaluate the differences between the Optia MNC...
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