Associated Papers
The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.
Grigore LG et al.
Current Issues in Molecular Biology, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
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
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T1
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5
Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R et al.
Scientific Reports, 2022
35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Tubeuf H et al.
Cancer Research, 2020
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
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
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1
Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
Apessos A et al.
Cancer Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Pentsova EI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Hadjisavvas A et al.
Cancer Genetics and Cytogenetics, 2004
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