Results 81 to 90 of about 44,419 (235)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Investigation of telomere maintenance in BRCA2 defective mammalian cell lines [PDF]

open access: yes, 2014
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityBRCA2 is a highly penetrant breast cancer predisposing gene.
Gozaly Chianea, Yaghoub
core  

Next‐Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices

open access: yesExploration, EarlyView.
This graphic abstract depicts the convergence of artificial intelligence, genetic technologies, bioengineering, and rehabilitation as the core pillars of next‐generation surgery. These domains collectively enhance preoperative planning, intraoperative precision, tissue reconstruction, and postoperative recovery, driving a paradigm shift toward ...
Dengxiong Li   +17 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

BRCA2 gene mutations and coagulation-associated biomarkers

open access: yes, 2015
Thromboembolic events are the second cause of death in cancer patients, although the mechanisms underlying this increased thromboembolic risk remain unclear.
Pérez Segura, Pedro   +13 more
core   +1 more source

Tumor Infiltrating Lymphocyte Therapy Combined With PD‐1/LAG‐3 Inhibition in Patients With Recurrent Platinum‐Resistant Ovarian Cancer

open access: yesInternational Journal of Cancer, EarlyView.
The detection of tumor‐infiltrating lymphocytes (TILs) is a positive prognostic factor in ovarian cancer. Moreover, TILs are significantly boosted by immunotherapy, though ovarian cancer patients have seen limited benefit from immune therapies. This study investigated the safety and feasibility of TIL therapy combined with PD‐1 and LAG‐3 inhibitors in ...
Tine J. Monberg   +9 more
wiley   +1 more source

Skp2 Overexpression Is Associated with Loss of BRCA2 Protein in Human Prostate Cancer [PDF]

open access: yesThe American Journal of Pathology, 2011
BRCA2 (breast cancer 2, early onset) is a tumor suppressor gene that confers increased susceptibility for prostate cancer (PCa). Previous in vitro experiments demonstrated that Skp2, an E3 ubiquitin ligase aberrantly overexpressed in PCa, is involved in the proteolytic degradation of BRCA2 in PCa cells, suggesting that the BRCA2-Skp2 interaction may ...
Arbini AA   +7 more
openaire   +4 more sources

Pancreatic Cancer Early Detection Biomarkers for High‐Risk Individuals: Insights From the PRECEDE Consortium

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington   +105 more
wiley   +1 more source

Preventing hereditary cancers caused by opportunistic carcinogens

open access: yes, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +1 more source

Clinical Implementation and Oncological Relevance of Molecular Profiling in Brain Metastases Patients—A Multicenter Retrospective Cohort Study

open access: yesInternational Journal of Cancer, EarlyView.
While current guidelines recommend the analysis of established cancer driver genes in brain metastases, little is known about its real‐life implementation. This multicenter study revealed an upward trend in the profiling rates of surgically treated brain metastases over the past decade, with up to 60% of brain metastases samples undergoing analysis ...
Maria Nikolaeva   +25 more
wiley   +1 more source

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