Associated Papers
The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.
Assaf N et al.
Cancer Management and Research, 2025
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 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
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Santonocito C et al.
Cancers, 2020
Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
Petrovics G et al.
Prostate Cancer and Prostatic Diseases, 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
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Zayas-Villanueva OA et al.
Bmc Cancer, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
Nicolussi A et al.
Peerj, 2019
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
Torres D et al.
Scientific Reports, 2017
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Buzolin AL et al.
Human Genomics, 2017
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Zanella I et al.
Experimental and Molecular Pathology, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.
Ricks-Santi L et al.
Ethnicity & Disease, 2017
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
Rodríguez-Balada M et al.
Cancer Genetics, 2016
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
Palmero EI et al.
Genetics and Molecular Biology, 2016
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
Kluska A et al.
Bmc Medical Genomics, 2015
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
Trujillano D et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
Ruiz A et al.
Biomed Research International, 2014
Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
Levanat S et al.
Gene, 2012
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
Caputo S et al.
Nucleic Acids Research, 2012
Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.
Balabas A et al.
Familial Cancer, 2010
Molecular and in silico analysis of BRCA1 and BRCA2 variants.
Tommasi S et al.
Mutation Research, 2008
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.
Torres D et al.
Breast Cancer Research and Treatment, 2007
Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.
Weber J et al.
Electrophoresis, 2006