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 …
A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays
Many mismatch repair (MMR) gene disease‐causing mutations identified in cancer patients
result in aberrant messenger RNA (mRNA) splicing. However, mRNA assay interpretation …
result in aberrant messenger RNA (mRNA) splicing. However, mRNA assay interpretation …
Intrinsic disorder and phosphorylation in BRCA2 facilitate tight regulation of multiple conserved binding events
The maintenance of genome integrity in the cell is an essential process for the accurate
transmission of the genetic material. BRCA2 participates in this process at several levels …
transmission of the genetic material. BRCA2 participates in this process at several levels …
HSF2BP interacts with a conserved domain of BRCA2 and is required for mouse spermatogenesis
I Brandsma, K Sato, SE van Rossum-Fikkert… - Cell reports, 2019 - cell.com
The tumor suppressor BRCA2 is essential for homologous recombination (HR), replication
fork stability, and DNA interstrand crosslink repair in vertebrates. We identify HSF2BP, a …
fork stability, and DNA interstrand crosslink repair in vertebrates. We identify HSF2BP, a …
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
MP Vallée, TL Di Sera, DA Nix, AM Paquette… - Human …, 2016 - Wiley Online Library
Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2
generates many unclassified variants (UVs). Most of these UVs are either rare missense …
generates many unclassified variants (UVs). Most of these UVs are either rare missense …
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
JD Fackenthal, T Yoshimatsu, B Zhang… - Journal of medical …, 2016 - jmg.bmj.com
Background BRCA1 and BRCA2 are the two principal tumour suppressor genes associated
with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often …
with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often …
Functional evaluation of BRCA2 variants map** to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay
Single-nucleotide substitutions and small in-frame insertions or deletions identified in
human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as …
human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as …
Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
A subset of genetic variants found through screening of patients with hereditary breast and
ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target …
ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target …
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
RLS Mesman, FMGR Calléja, M de la Hoya… - Genetics in …, 2020 - nature.com
Purpose Current interpretation guidelines for germline variants in high-risk cancer
susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense …
susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense …
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
M Colombo, G De Vecchi, L Caleca, C Foglia… - PloS one, 2013 - journals.plos.org
Several unclassified variants (UVs) have been identified in splicing regions of disease-
associated genes and their characterization as pathogenic mutations or benign …
associated genes and their characterization as pathogenic mutations or benign …