Results 71 to 80 of about 177,994 (348)

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity [PDF]

, 2019
The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign
Adamovich, Aleksandra I, Banerjee, Tapahsama, Chen, Feng, Ding, Li, Duncan, Kathryn, Huang, Kuan-lin, Lee, Cindy, Ning, Jie, Parvin, Jeffrey D, Rodrigues, Fernanda Martins, Wingo, Margaret   +10 more
core   +3 more sources

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Complex-based analysis of dysregulated cellular processes in cancer [PDF]

, 2014
Background: Differential expression analysis of (individual) genes is often used to study their roles in diseases. However, diseases such as cancer are a result of the combined effect of multiple genes.
Khanna, Kum Kum, Liu, Chao, Madhamshettiwar, Piyush B., Ragan, Mark A., Simpson, Peter T., Song, Sarah, Srihari, Sriganesh   +6 more
core   +1 more source

Interplay among BRCA1, SIRT1, and Survivin during BRCA1-Associated Tumorigenesis [PDF]

Molecular Cell, 2008
Germline mutations of BRCA1 predispose women to breast and ovarian cancers. However, the downstream mediators of BRCA1 function in tumor suppression remain elusive. We found that human BRCA1-associated breast cancers have lower levels of SIRT1 than their normal controls. We further demonstrated that mammary tumors from Brca1 mutant mice have low levels
Wang, Rui-Hong, Zheng, Yin, Kim, Hyun-Seok, Xu, Xiaoling, Cao, Liu, Lahusen, Tyler, Lee, Mi-Hye, Xiao, Cuiying, Vassilopoulos, Athanassios, Chen, Weiping, Gardner, Kevin, Man, Yan-Gao, Hung, Mien-Chie, Finkel, Toren, Deng, Chu-Xia   +14 more
openaire   +2 more sources

Kelvin Probe Force Microscopy in Bionanotechnology: Current Advances and Future Perspectives

Advanced Materials, EarlyView.
Kelvin probe force microscopy (KPFM) enables the nanoscale mapping of electrostatic surface potentials. While widely applied in materials science, its use in biological systems remains emerging. This review presents recent advances in KPFM applied to biological samples and provides a critical perspective on current limitations and future directions for
Ehsan Rahimi, Mario Palacios‐Corella, Arjan Mol, Salvador Pané, Josep Puigmartí‐Luis   +4 more
wiley   +1 more source

Population testing for cancer predisposing BRCA1/BRCA2 mutations [PDF]

, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

End‐to‐End Sensing Systems for Breast Cancer: From Wearables for Early Detection to Lab‐Based Diagnosis Chips

Advanced Materials Technologies, EarlyView.
This review explores advances in wearable and lab‐on‐chip technologies for breast cancer detection. Covering tactile, thermal, ultrasound, microwave, electrical impedance tomography, electrochemical, microelectromechanical, and optical systems, it highlights innovations in flexible electronics, nanomaterials, and machine learning.
Neshika Wijewardhane, Lyn I. Jones, Richard M. Martin, Helen Winter, Faezeh Arab Hassani   +4 more
wiley   +1 more source

Factors Influencing Uptake of Risk-Reducing Salpingo-Oophorectomy by BRCA1 and BRCA2 Mutation Carriers [PDF]

, 2016
Germline mutations in the BRCA1 and BRCA2 genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo ...
Breen, Victoria E
core   +1 more source

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model

Advanced Science, EarlyView.
A TP53‐specific predictor, CaVepP53, is developed by fine‐tuning ESMC on experimentally validated variants, quantifying pathogenicity via Euclidean distances. It outperforms general‐purpose models and extends to five cancer genes, enabling interpretable variant classification for precision medicine.
Huiying Chen, Yang Zhao, Boqiang Hu, Wuke Wang, Minfang Song, Annabeth Xinyu Zhao, Xiangyang Li, Gefei Wang, Yanfen Wang, Weiyan Zheng, Xinpeng Zhang, Xia Lin, Yanbin Yin, Xingxu Huang, Jinfang Zheng, Tingbo Liang   +15 more
wiley   +1 more source

The Development of a Fuzzy Logic System Using MATLAB for Early Detection of Hereditary Cancer in BRCA1/2 Negative Cases

Balkan Journal of Medical Genetics
The purpose of our study is to expedite cancer diagnosis through the development of software for rapid detection of hereditary breast cancer (BC) with negative BRCA1/2 on MATLAB, utilizing a fuzzy logic system with several variants of genes associated ...
Senturk N, Volkan GP, SM Babiker Ali, Dogan B, Aliyeva L, Sag OS, Temel G S, Dundar M, Ergoren C M   +8 more
doaj   +1 more source