Associated Papers
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y et al.
Nature Communications, 2024
39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt
Similar genetic profile in early and late stage urothelial tract cancer.
Stormoen DR et al.
Journal of Cancer Research and Clinical Oncology, 2024
38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_DNA_only
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.
Szczerba E et al.
Genes, 2021
Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
Sun P et al.
Bmc Cancer, 2020
33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Fraile-Bethencourt E et al.
Plos Genetics, 2017
28339459 (PubMed )
Supplement: pgen.1006691.s004.pdf
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
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
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