Associated Papers
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
Fanale D et al.
Frontiers in Oncology, 2021
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Khabou B et al.
Computational Biology and Chemistry, 2016
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
Li L et al.
Human Mutation, 2009
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Kuznetsov SG et al.
Nature Medicine, 2008
Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.
Pettigrew CA et al.
Breast Cancer Research and Treatment, 2008
Functional assays for classification of BRCA2 variants of uncertain significance.
Farrugia DJ et al.
Cancer Research, 2008
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
Anczuków O et al.
Genes, Chromosomes & Cancer, 2008
Pre-mRNA splicing aberrations and cancer.
Pettigrew CA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
Tesoriero AA et al.
Human Mutation, 2005
BRCA2 T2722R is a deleterious allele that causes exon skipping.
Fackenthal JD et al.
American Journal of Human Genetics, 2002
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.
Bruun GH et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details