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BRCA Mutation Testing in Men with Metastatic Castration-Resistant Prostate Cancer: Practical Guidance for Australian Clinical Practice.
Asia Pac J Clin Oncol
January 2025
LifeStrands Genomics Australia, Mount Waverley, Victoria, Australia.
Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC.
View Article and Find Full Text PDFAn expanding universe of mutational signatures and its rapid evolution in single-stranded RNA viruses.
Mol Biol Evol
January 2025
Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
The study of mutational processes in somatic genomes has gained recent momentum, uncovering a wide array of endogenous and exogenous factors associated with somatic changes. However, the overall landscape of mutational processes in germline mutations across the tree of life and associated evolutionary driving forces are rather unclear. In this study, we analyzed mutational processes in single-stranded RNA (ssRNA) viruses which are known to jump between different hosts with divergent exogenous environments.
View Article and Find Full Text PDFFamilial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.
View Article and Find Full Text PDFNeuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.
Curr Treat Options Oncol
January 2025
Interdisciplinary Department of Medicine, Section of Sciences and Technologies of Laboratory Medicine, University of Bari "Aldo Moro", Piazza G. Cesare 11, 70124, Bari, Italy.
The vast majority of neuroendocrine 'neoplasms (NENs) are sporadic, although recent evidence has indicated that a subset of these cancers may also originate as a result of genetic germline mutations. To date, 10% of these cancers can be linked to an inherited genetic syndrome. Genetic diagnosis is crucial for patients with a suspected hereditary NEN syndrome, as it recognizes patients carrying germline mutations and allows for personalized clinical follow-up, considering the higher risk of developing other tumours.
View Article and Find Full Text PDFStructural analysis of the impact of germline mutations of p16 in melanoma prone families.
Mol Divers
January 2025
Department of Biotechnology, National Institute of Technology Warangal, Hanamkonda, Telangana, India.
Cyclin-dependent kinases (CDKs), play essential roles in cell cycle progression. CDK activity is controlled through phosphorylation and inhibition by CDK inhibitors, such as p16. Mutations in p16 can lead to diseases such as cancer.
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