Tumor mutational burden as a determinant of metastatic dissemination patterns
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal +4 more
wiley +1 more source
Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer
Hikmat Abdel-Razeq,1,2 Lama Abujamous,3 Khansa Al-Azzam,1 Hala Abu-Fares,1 Hira Bani Hani,1 Mais Alkyam,1 Baha’ Sharaf,1 Shatha Elemian,1 Faris Tamimi,1 Fawzi Abuhijla,4 Sarah Edaily,1 Osama Salama,1 Hazem Abdulelah,1 Rand Daoud,1 Mohammad Abubaker,1 ...
Abdel-Razeq H +15 more
doaj
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay [PDF]
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers).
Baert, Annelot +10 more
core +1 more source
NDST3‐Induced Epigenetic Reprogramming Reverses Neurodegeneration in Parkinson's Disease
NDST3‐mediated epigenetic reprogramming revitalizes neuronal circuits in the substantia nigra and striatum to halt dopaminergic neuron degeneration and restore motor function in Parkinson's disease models. This strategy promotes neuronal maintenance and functional recovery, highlighting NDST3's therapeutic potential in neurodegenerative disorders ...
Yujung Chang +18 more
wiley +1 more source
Supplementary Figure 2 from 6-Thioguanine Selectively Kills BRCA2-Defective Tumors and Overcomes PARP Inhibitor Resistance [PDF]
Natalia Issaeva +19 more
openalex +1 more source
BRCA2: a universal recombinase regulator [PDF]
Homologous recombination has a dual role in eukaryotic organisms. Firstly, it is responsible for the creation of genetic variability during meiosis by directing the formation of reciprocal crossovers that result in random combinations of alleles and traits.
T, Thorslund, S C, West
openaire +2 more sources
The Challenge of Handling Structured Missingness in Integrated Data Sources
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
BRCA1/2 associated cancer susceptibility: a clinical overview
The most frequently identified genetic cause of breast cancer is the germline mutation of BRCA1 and 2 genes. The carriers of these mutations are at high risk for breast and ovarian cancers and increased risk for pancreatic and prostate cancers.
Lypas Georgios
doaj +1 more source
Factors Influencing Uptake of Risk-Reducing Salpingo-Oophorectomy by BRCA1 and BRCA2 Mutation Carriers [PDF]
Germline mutations in the BRCA1 and BRCA2 genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo ...
Breen, Victoria E
core +1 more source
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source

