Associated Papers
Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.
Yim H et al.
Human Genomics, 2025
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.
Ha C et al.
Frontiers in Genetics, 2023
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
Bang YJ et al.
Cancer Research and Treatment, 2022
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021
Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.
Jung Y et al.
Journal of Gynecologic Oncology, 2021
BRCA and Breast Cancer-Related High-Penetrance Genes.
Han SA et al.
Advances in Experimental Medicine and Biology, 2021
Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
Park K et al.
Journal of Clinical Laboratory Analysis, 2020
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
Ha HI et al.
Journal of Gynecologic Oncology, 2020
Germline and Somatic BRCA1/2 Gene Mutational Status and Clinical Outcomes in Epithelial Peritoneal, Ovarian, and Fallopian Tube Cancer: Over a Decade of Experience in a Single Institution in Korea.
Kim SI et al.
Cancer Research and Treatment, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.
Hur JY et al.
Cancers, 2020
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
Choi MC et al.
Cancer Research and Treatment, 2020
An optimized BRCA1/2 next-generation sequencing for different clinical sample types.
Kim Y et al.
Journal of Gynecologic Oncology, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.
Kwon BS et al.
Cancer Research and Treatment, 2019
BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
Kim DH et al.
Journal of Gynecologic Oncology, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.
Choi MC et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
Park JS et al.
Cancer Research and Treatment, 2017
Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.
Shin S et al.
Oncotarget, 2017
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
Park B et al.
Breast Cancer Research and Treatment, 2017
Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.
Kim DH et al.
Bmc Medical Genetics, 2017
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.
Shin S et al.
Breast Cancer Research and Treatment, 2016
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
Kang E et al.
Breast Cancer Research and Treatment, 2015
The korean hereditary breast cancer study: review and future perspectives.
Kang E et al.
Journal of Breast Cancer, 2013
BRCA1 gene mutation in thymic malignant melanoma.
Yi EJ et al.
The Annals of Thoracic Surgery, 2013
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
Kim H et al.
Breast Cancer Research and Treatment, 2012
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
Jang JH et al.
Journal of Human Genetics, 2012
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
Kwong A et al.
Plos One, 2012
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.
Seong MW et al.
Clinical Genetics, 2009
BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.
Ahn SH et al.
Cancer Letters, 2007