Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine
This article reviews genes and syndromes associated with predisposition to colorectal
cancer (CRC), with an overview of gene variant classification. We include updates on the …
cancer (CRC), with an overview of gene variant classification. We include updates on the …
Epigenetic changes in healthy human skeletal muscle following exercise–a systematic review
Exercise training is continually challenging whole-body homeostasis, leading to
improvements in performance and health. Adaptations to exercise training are complex and …
improvements in performance and health. Adaptations to exercise training are complex and …
Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for develo** disease …
M de La Hoya, O Soukarieh… - Human molecular …, 2016 - academic.oup.com
A recent analysis using family history weighting and co-observation classification modeling
indicated that BRCA1 c. 594-2A> C (IVS9-2A> C), previously described to cause exon 10 …
indicated that BRCA1 c. 594-2A> C (IVS9-2A> C), previously described to cause exon 10 …
Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?
A Moles-Fernández, L Duran-Lozano… - Frontiers in …, 2018 - frontiersin.org
In silico tools for splicing defect prediction have a key role to assess the impact of variants of
uncertain significance. Our aim was to evaluate the performance of a set of commonly used …
uncertain significance. Our aim was to evaluate the performance of a set of commonly used …
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
M Colombo, MJ Blok, P Whiley… - Human molecular …, 2014 - academic.oup.com
Loss-of-function germline mutations in BRCA1 (MIM# 113705) confer markedly increased
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
L Sanoguera-Miralles, A Valenzuela-Palomo… - Clinical …, 2024 - academic.oup.com
Background Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary
cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast …
cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast …
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and …
A subset of DNA variants causes genetic disease through aberrant splicing. Experimental
splicing assays, either RT‐PCR analyses of patient RNA or functional splicing reporter …
splicing assays, either RT‐PCR analyses of patient RNA or functional splicing reporter …
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18
E Fraile-Bethencourt, B Díez-Gómez… - PLoS …, 2017 - journals.plos.org
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction
of variants of uncertain clinical significance (VUS) whose functional and clinical …
of variants of uncertain clinical significance (VUS) whose functional and clinical …
Beyond DNA: an integrated and functional approach for classifying germline variants in breast cancer genes
Genetic testing for hereditary breast cancer is an integral part of individualized care in the
new era of precision medicine. The accuracy of an assay is reliant on not only the …
new era of precision medicine. The accuracy of an assay is reliant on not only the …
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skip** events
LC de Jong, S Cree, V Lattimore, GAR Wiggins… - Breast Cancer …, 2017 - Springer
Background Laboratory assays evaluating the effect of DNA sequence variants on BRCA1
mRNA splicing may contribute to classification by providing molecular evidence. However …
mRNA splicing may contribute to classification by providing molecular evidence. However …