Associated Papers
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 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
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
Salmi F et al.
Plos One, 2021
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
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 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
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Changes in classification of genetic variants in BRCA1 and BRCA2.
Kast K et al.
Archives of Gynecology and Obstetrics, 2018
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D et al.
Plos One, 2017
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
Wojcik P et al.
Hereditary Cancer in Clinical Practice, 2016
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Münz M et al.
Genome Medicine, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Tazzite A et al.
Gynecologic Oncology, 2012
Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
Levanat S et al.
Gene, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.
Coulet F et al.
Genetic Testing and Molecular Biomarkers, 2010
Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.
Yang R et al.
Breast Cancer Research and Treatment, 2009