Error-prone repair of stalled replication forks drives mutagenesis and loss of heterozygosity in haploinsufficient BRCA1 cells

M Deshpande, T Paniza, N Jalloul, G Nanjangud… - Molecular cell, 2022 - cell.com
Germline mutations in the BRCA genes are associated with a higher risk of carcinogenesis,
which is linked to an increased mutation rate and loss of the second unaffected BRCA allele …

Pathogenic BRCA1 variants disrupt PLK1-regulation of mitotic spindle orientation

Z He, R Ghorayeb, S Tan, K Chen… - Nature …, 2022 - nature.com
Preneoplastic mammary tissues from human female BRCA1 mutation carriers, or Brca1-
mutant mice, display unexplained abnormalities in luminal differentiation. We now study the …

HOXA5-mediated stabilization of IκBα inhibits the NF-κB pathway and suppresses malignant transformation of breast epithelial cells

P Pai, G Wang, WW Teo, D Raez-Rodriguez… - Cancer research, 2022 - AACR
HOXA5 is a transcription factor and tumor suppressor that promotes differentiation of breast
epithelial cells and is frequently lost during malignant transformation. HOXA5 loss alone …

PIK3CA mutations and TP53 alterations cooperate to increase cancerous phenotypes and tumor heterogeneity

S Croessmann, HY Wong, DJ Zabransky, D Chu… - Breast cancer research …, 2017 - Springer
Background/purpose The combined contributions of oncogenes and tumor suppressor
genes toward carcinogenesis remain poorly understood. Elucidation of cancer gene …

BRCA1 mutations attenuate super-enhancer function and chromatin looping in haploinsufficient human breast epithelial cells

X Zhang, Y Wang, HC Chiang, YP Hsieh, C Lu… - Breast Cancer …, 2019 - Springer
Background BRCA1-associated breast cancer originates from luminal progenitor cells.
BRCA1 functions in multiple biological processes, including double-strand break repair …

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain …

M Ozgencil, J Barwell, M Tischkowitz, L Izatt… - Plos one, 2021 - journals.plos.org
Establishing a universally applicable protocol to assess the impact of BRCA1 variants of
uncertain significance (VUS) expression is a problem which has yet to be resolved despite …

Increased centrosome number in BRCA‐related breast cancer specimens determined by immunofluorescence analysis

G Watanabe, N Chiba, T Nomizu, A Furuta… - Cancer …, 2018 - Wiley Online Library
BRCA‐related breast carcinoma can be prevented through prophylactic surgery and an
intensive follow‐up regimen. However, BRCA genetic tests cannot be routinely performed …

Reformer: Deep learning model for characterizing protein-RNA interactions from sequence at single-base resolution

X Shen, X Li - bioRxiv, 2024 - biorxiv.org
Protein-RNA interactions play an essential role in the regulation of transcription, translation,
and metabolism of cellular RNA. Here, we develop Reformer, a deep learning model that …

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India

A Kour, V Sambyal, K Guleria, NR Singh… - … and molecular biology, 2020 - SciELO Brasil
The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known
pathogenic role in breast cancer. The present study investigated in North Indian breast …

BRCA1 regulates the PLK1-mediated spindle positioning pathway that promotes luminal features and may suppress tumorigenesis in mammary epithelial cells

Z He - 2021 - open.library.ubc.ca
Female carriers of mutations in Breast cancer, early onset 1 (BRCA1) show an elevated risk
to develop breast cancers that resemble the primitive and proliferative cells of the mammary …