Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis

R Yoshida - Breast Cancer, 2021 - Springer
Breast cancer is a common cancer affecting a large number of patients. Notably, 5–10% of
all breast cancer patients are genetically predisposed to cancers. Although the most …

[HTML][HTML] The role of alternative splicing in cancer: From oncogenesis to drug resistance

R Sciarrillo, A Wojtuszkiewicz, YG Assaraf… - Drug Resistance …, 2020 - Elsevier
Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

BRCAness revisited

CJ Lord, A Ashworth - Nature Reviews Cancer, 2016 - nature.com
Over the past 20 years, there has been considerable progress in our understanding of the
biological functions of the BRCA1 and BRCA2 cancer susceptibility genes. This has led to …

RNA splicing factors as oncoproteins and tumour suppressors

H Dvinge, E Kim, O Abdel-Wahab… - Nature Reviews Cancer, 2016 - nature.com
The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

The epitranscriptome m6A writer METTL3 promotes chemo- and radioresistance in pancreatic cancer cells

K Taketo, M Konno, A Asai… - International …, 2017 - spandidos-publications.com
N 6-methyladenosine (m6A) is the most abundant epitranscriptome modification in
mammalian mRNA. Recent years have seen substantial progress in m6A epitranscriptomics …

BRCA1–BARD1 promotes RAD51-mediated homologous DNA pairing

W Zhao, JB Steinfeld, F Liang, X Chen, DG Maranon… - Nature, 2017 - nature.com
The tumour suppressor complex BRCA1–BARD1 functions in the repair of DNA double-
stranded breaks by homologous recombination. During this process, BRCA1–BARD1 …

BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair

E Hatchi, K Skourti-Stathaki, S Ventz, L Pinello, A Yen… - Molecular cell, 2015 - cell.com
The mechanisms contributing to transcription-associated genomic instability are both
complex and incompletely understood. Although R-loops are normal transcriptional …

Detained introns are a novel, widespread class of post-transcriptionally spliced introns

PL Boutz, A Bhutkar, PA Sharp - Genes & development, 2015 - genesdev.cshlp.org
Deep sequencing of embryonic stem cell RNA revealed many specific internal introns that
are significantly more abundant than the other introns within polyadenylated transcripts; we …

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

A Pellagatti, RN Armstrong, V Steeples… - Blood, The Journal …, 2018 - ashpublications.org
Abstract SF3B1, SRSF2, and U2AF1 are the most frequently mutated splicing factor genes in
the myelodysplastic syndromes (MDS). We have performed a comprehensive and …

Defective control of pre–messenger RNA splicing in human disease

B Chabot, L Shkreta - Journal of Cell Biology, 2016 - rupress.org
Examples of associations between human disease and defects in pre–messenger RNA
splicing/alternative splicing are accumulating. Although many alterations are caused by …