about
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingEvaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case reportComparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorAnalysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.An unusual BRCA2 allele carrying two splice site mutationsPALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of BergamoHMGA1 protein expression in familial breast carcinoma patientsUsefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-5465-354X
@en
name
Mara Colombo
@ast
Mara Colombo
@en
Mara Colombo
@es
Mara Colombo
@nl
type
label
Mara Colombo
@ast
Mara Colombo
@en
Mara Colombo
@es
Mara Colombo
@nl
prefLabel
Mara Colombo
@ast
Mara Colombo
@en
Mara Colombo
@es
Mara Colombo
@nl
P106
P1153
7203013775
P31
P496
0000-0001-5465-354X