Results 111 to 120 of about 143,588 (347)

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

open access: yesHuman Mutation, 2018
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
T. Rebbeck   +241 more
semanticscholar   +1 more source

RESPONSE TO NEOADYAVANT CHEMOTHERAPY WITH PLATINUM-BASED DRUGS IN BREAST CANCER PATIENTS WITH BRCA1 DELETION IN TUMOR

open access: yesСибирский онкологический журнал, 2019
Currently, the presence of the germinal mutation BRCA1 5382insC in breast cancer patients is one of the determining factors for prescribing platinum-based drugs.
M. M. Tsyganov   +7 more
doaj   +1 more source

Low Frequency of 185delAG Founder Mutation of BRCA1 Gene in Iranian Breast Cancer Patients [PDF]

open access: yes
AIM: The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. In this study, we aimed to investigate the probable founder mutations of BRCA1 and BRCA2 genes in Iranian breast ...
حسینی اصل, سید سعید   +5 more
core  

Locating the Protein Binding Region of p53 and the Intrinsically Disordered Region of BRCA1

open access: yes, 2022
BRCA1 and p53 have been shown to interact in tumor supressor pathways that protect against hereditary breast and ovarian cancer. Finding the physical binding location associated with this interplay is important in assessing cancer risk and determining ...
Norman, Anna
core  

Discovery of a Potent Fluorescence Polarization Probe for Identifying USP1 Allosteric Inhibitors

open access: yesAdvanced Science, EarlyView.
This study presents the first ubiquitin‐specific protease 1 (USP1) allosteric fluoroprobe and fluorescence polarization assay, enabling the differentiation of allosteric and catalytic site inhibitors. Further, a novel class of tetrahydroisoquinoline‐based USP1 inhibitors is designed, with compound 14a (USP1 IC50 = 29.9 nM) showing strong selectivity ...
Jiawei Cheng   +12 more
wiley   +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

Population testing for cancer predisposing BRCA1/BRCA2 mutations

open access: yes, 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  

T Cell‐Independent Role of PD‐L1 in Kidney Repair: Mitigation of Tubular DNA Damage via PD‐L1/BRCA1 Interaction Following AKI

open access: yesAdvanced Science, EarlyView.
PD‐L1 is primarily expressed in renal tubules and upregulated in both murine models of AKI and renal biopsy samples from patients with AKI. PD‐L1 can promote adaptive TECs repair through interacting with BRCA1, independent of its canonical immunomodulatory function of T cells, and PD‐L1 supplementation may represent a promising therapeutic strategy for
Wei Jiang   +17 more
wiley   +1 more source

Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations

open access: yesEuropean Urology, 2019
Background Poly ADP-ribose polymerase (PARP) inhibitors, such as olaparib, are being explored as a treatment option for metastatic castration-resistant prostate cancer (mCRPC) in men harboring mutations in homologous recombination DNA-repair genes ...
C. Marshall   +7 more
semanticscholar   +1 more source

Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions [PDF]

open access: yes, 1999
Reduced expression of BRCA1 has been implicated in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. To determine whether regulatory mutations could account for the reduced expression, we screened the promoter ...
Hodgson, S   +23 more
core   +1 more source

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