Results 71 to 80 of about 114,676 (292)

Phase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis

open access: yesHepatology, EarlyView., 2022
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou   +13 more
wiley   +1 more source

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

open access: yesBMC Cancer, 2018
Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens   +4 more
doaj   +1 more source

Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations

open access: yesNature Communications, 2020
Somatic and germline mutations are found at different densities across the genome. Here, the authors compare human somatic tumour mutations with the germline of humans, chimpanzees, and gorillas, and find that the mutation density of tumours correlates ...
José María Heredia-Genestar   +3 more
doaj   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

open access: yesAdvanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang   +13 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

A novel germline mutation of KEAP1 (R483H) associated with a nontoxic multinodular goiter

open access: yesFrontiers in Endocrinology, 2016
Background: A germline mutation of KEAP1 gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established.Patient Findings: We report a 47-year ...
Eijun Nishihara   +11 more
doaj   +1 more source

Red Blood Cells Internalize Extracellular DNA via Apoptotic Bodies with Clinical Relevance to Cancer Patients

open access: yesAdvanced Science, EarlyView.
Mature red blood cells (RBCs) can capture extracellular DNA, with short fragments homologous to cfDNA. This uptake is mediated by apoptotic bodies, which induce RBC oxidative stress, deformation, and accelerated in vivo clearance. The rbcDNA abundance correlates with tumor burden and therapeutic response, highlighting its potential as a liquid biopsy ...
Zihang Zeng   +20 more
wiley   +1 more source

Characteristics of Germline and Somatic Mutations of DNA Repair Genes in Korean Men with Prostate Cancer

open access: yesThe World Journal of Men's Health
Purpose: While the association between defect of DNA damage repair (DDR) genes and prostate cancer (PCa) risk is wellestablished, there has been a lack of data in East Asian population.
Hakmin Lee   +8 more
doaj   +1 more source

Germline breast cancer susceptibility gene mutations and breast cancer outcomes

open access: yesBMC Cancer, 2018
Background It is unclear whether germline breast cancer susceptibility gene mutations affect breast cancer related outcomes. We wanted to evaluate mutation patterns in 20 breast cancer susceptibility genes and correlate the mutations with clinical ...
Yong Alison Wang   +6 more
doaj   +1 more source

Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting R‐Loop Accumulation and DNA Repair Deficiencies

open access: yesAdvanced Science, EarlyView.
ARID1A, a SWI/SNF complex component, is frequently mutated in colorectal cancer (CRC). CRC with ARID1A/TP53 concurrent mutations shows marked sensitivity to WEE1 inhibition. ARID1A loss induces R‐loop‐mediated replication stress, impairs ATF3 transcription, and amplifies WEE1i‐induced DNA damage, suggesting a promising therapeutic vulnerability ...
Chi Zhang   +17 more
wiley   +1 more source

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