Associated Papers
Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.
Livshun S et al.
Scientific Reports, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Molecular characteristics of Asian male BRCA-related cancers.
Kwong A et al.
Breast Cancer Research and Treatment, 2023
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
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 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
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc Cancer, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Extended gene panel testing in lobular breast cancer.
van Veen EM et al.
Familial Cancer, 2022
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
Ji G et al.
Annals of Translational Medicine, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Canson D et al.
Human Mutation, 2020
Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.
Stauffer S et al.
Journal of Human Genetics, 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
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
Zhang X et al.
Reproductive Biology and Endocrinology : Rb&e, 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
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E et al.
The Journal of Pathology, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
Cao WM et al.
Bmc Cancer, 2019
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
Liang Y et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 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
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD et al.
Journal of Medical Genetics, 2016
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
Kim YC et al.
Oncotarget, 2016
Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.
Cao WM et al.
Bmc Cancer, 2016
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Acedo A et al.
Breast Cancer Research : Bcr, 2012