Results 51 to 60 of about 1,715,615 (239)

Absence of rearrangements in the BRCA2 gene in human cancers [PDF]

open access: yesBritish Journal of Cancer, 2001
Mutations of BRCA2 in sporadic breast and ovarian carcinomas are exceedingly rare. This led to the suggestion that large genomic rearrangements could be involved. We performed Southern blots in genomic DNA from 130 primary breast cancers and 83 cancer cell lines (breast, ovarian, pancreatic and small cell lung carcinomas) and found no genomic ...
Chin, S-F   +3 more
openaire   +2 more sources

Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients [PDF]

open access: yesBalkan Journal of Medical Genetics, 2012
ABSTRACT The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance ...
Plaseska-Karanfilska Dijana   +7 more
openaire   +3 more sources

Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family [PDF]

open access: yesMedicina, 2020
Approximately 10% of all breast cancer (BC) cases are familial and caused by inheritance of mutant BRCA1, BRCA2, or some other genes from the same DNA reparation pathway. Genetic counseling in families with cancer history is a powerful means for early cancer detection and active risk reduction through preventive interventions.
Ieva Sadzevičienė   +7 more
openaire   +3 more sources

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

open access: yesAging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Integrative Multi‐Omics Analysis Reveals a Mitochondrial–Immune Axis Associated With Neoadjuvant Chemotherapy Response in High‐Grade Serous Ovarian Cancer

open access: yesAdvanced Science, EarlyView.
Integrative multi‐omics analysis delineates a mitochondrial–immune axis governing neoadjuvant chemotherapy response in high‐grade serous ovarian cancer. Immune‐active tumors exhibit enhanced B‐cell infiltration and favorable sensitivity, whereas metabolically rewired tumors display oxidative phosphorylation dependency and resistance.
Wei Jiang   +11 more
wiley   +1 more source

DDX21 Enhances Radiosensitivity in Head and Neck Squamous Cell Carcinoma by Suppressing MK2‐Mediated DNA Damage Response

open access: yesAdvanced Science, EarlyView.
DDX21 suppresses MK2 activation by directly inhibiting Thr334 phosphorylation in a p38‐independent manner, thereby impairing DNA damage response. Clinically, patients with well‐differentiated tumors exhibiting high DDX21 expression are more likely to benefit from adjuvant radiotherapy, whereas those with low DDX21 levels are predisposed to ...
Tianru Yang   +8 more
wiley   +1 more source

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) [PDF]

open access: yes, 2009
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and ...
Rodriguez, GC   +815 more
core   +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

Hypersensitivity of BRCA1 heterozygote lymphoblastoid cells to gamma radiation and PARP inhibitors [PDF]

open access: yes, 2013
This article is made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Bourton EC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use ...
Bourton, EC   +5 more
core   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia   +35 more
wiley   +1 more source

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