Results 71 to 80 of about 68,288 (264)

Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer [PDF]

open access: yesJournal of Liaquat National Hospital
Breast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant due to small allelic variations.
Saba Munir   +6 more
doaj   +1 more source

Pancancer Fine‐Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma

open access: yesAdvanced Science, EarlyView.
This study identifies mutation‐intolerant genes (MIGs), which are mutationally constrained in tumors despite normal‐tissue variability. Using miDriver, the authors pinpoint MIGs essential for tumor‐intrinsic fitness and immune evasion. Focusing on CHEK1, they show it drives tumor fitness and sculpts an immunosuppressive niche via the MIF–CD74 axis ...
Tao Wang   +16 more
wiley   +1 more source

Genetic Screens Reveal FEN1 and APEX2 as BRCA2 Synthetic Lethal Targets.

open access: yesMolecules and Cells, 2019
BRCA1 or BRCA2 inactivation drives breast and ovarian cancer but also creates vulnerability to poly(ADP-ribose) polymerase (PARP) inhibitors. To search for additional targets whose inhibition is synthetically lethal in BRCA2-deficient backgrounds, we ...
Kristen E. Mengwasser   +6 more
semanticscholar   +1 more source

Clinical outcomes and prognostic features of germline BRCA mutant breast cancer patients: single-center experience, Madinah, Saudi Arabia [PDF]

open access: yesWorld Cancer Research Journal
Objective: The aim of this study is to evaluate the clinicopathological features and prognostic impact of breast cancer harboring germline BRCA1/2 mutation.
M. Aljahel   +16 more
doaj   +1 more source

Ultrasound‐Responsive Engineered Bacteria for Targeted Cancer Therapy: Strategies, Mechanisms, and Applications

open access: yesAdvanced Science, EarlyView.
This review elucidates URB design strategies, including genetic and physicochemical modifications, while dissecting the synergistic mechanisms governing spatiotemporal control. It further evaluates applications in targeted drug delivery, gene modulation, and immunotherapy, finally offering perspectives on overcoming translational barriers for clinical ...
Xueyao Wang   +5 more
wiley   +1 more source

The Challenge of Handling Structured Missingness in Integrated Data Sources

open access: yesAdvanced Intelligent Discovery, EarlyView.
As data integration becomes ever more prevalent, a new research question that emerges is how to handle missing values that will inevitably arise in these large‐scale integrated databases? This missingness can be described as structured missingness, encompassing scenarios involving multivariate missingness mechanisms and deterministic, nonrandom ...
James Jackson   +6 more
wiley   +1 more source

BRCA2 gene mutation in cancer

open access: yesMedicine, 2022
Breast cancer susceptibility gene 2 (BRCA2) is the main gene associated with hereditary breast cancers. However, a mutation in BRCA2 has also been found in other tumors, such as ovarian, pancreatic, thyroid, gastric, laryngeal, and prostate cancers. In this review, we discuss the biological functions of BRCA2 and the role of BRCA2 mutations in tumor ...
Chunbao Xie   +5 more
openaire   +2 more sources

BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report

open access: yesCase Reports in Oncology, 2023
A 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone ...
Keisuke Okubo   +15 more
doaj   +1 more source

Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment‐Resistant Subclones at the Time of Diagnosis

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov   +14 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

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