Associated Papers
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers.
Huang CC et al.
Annals of Surgical Oncology, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
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
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
Lang GT et al.
International Journal of Cancer, 2017
Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
Kwong A et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Hereditary breast cancer in the Han Chinese population.
Cao W et al.
Journal of Epidemiology, 2013
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
A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer.
Kwong A et al.
Breast Cancer Research and Treatment, 2009
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
Machackova E et al.
Bmc Cancer, 2008