Somatic analysis of the molecular features of human tumors through numerous efforts including The Cancer Genome Atlas consortium has led to unprecedented insight into the biological basis of cancer behavior. Numerous genomewide sequencing techniques have been utilized in these studies to understand DNA mutations, epigenomic alterations, and ultimately differences in protein expression profiles across various cancers. Due to the dropping costs of next-generation sequencing as well as growing power and ease of use of computational resources, researchers are able to apply these techniques to more specific cancer contexts and/or rarer tumor types. In this chapter, we describe the rationale for and details of methods used in our group for exome analysis of germ cell tumors. The methods described should also be readily applicable to genomic analysis of other tumors.
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http://dx.doi.org/10.1007/978-1-0716-0860-9_13 | DOI Listing |
Cancer Med
February 2025
Department of Medical Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.
Introduction: Pancreatic cancer arising in the context of BRCA predisposition may benefit from poly(ADP-ribose) polymerase inhibitors. We analyzed real-world data on the impact of olaparib on survival in metastatic pancreatic cancer patients harboring germline BRCA mutations in Italy, where olaparib is not reimbursed for this indication.
Methods: Clinico/pathological data of pancreatic cancer patients with documented BRCA1-2 germline pathogenic variants who had received first-line chemotherapy for metastatic disease were collected from 23 Italian oncology departments and the impact of olaparib exposure on overall survival (OS) was analyzed.
Int J Mol Sci
January 2025
State Key Laboratory of Virology and Biosafety, Department of Medical Microbiology, School of Basic Medical Sciences, Wuhan University, Wuhan 430071, China.
HERVs (Human endogenous retroviruses) are remnants of ancient exogenous retroviruses that have integrated into the human genome, particularly in germ-line cells. Among these, the envelope protein gene (Human endogenous retroviruses W family envelope protein), located on chromosome 7 and primarily expressed in the human placenta, has been closely linked to various neuropsychiatric disorders, including schizophrenia, as well as autoimmune diseases and cancer. Recent studies have highlighted the abnormal expression of cytokines as a key factor in the pathophysiology of schizophrenia.
View Article and Find Full Text PDFBMC Genomics
January 2025
MOE Key Laboratory of Marine Genetics and Breeding, Laboratory for Marine Biology and Biotechnology (Qingdao Marine Science and Technology Center), Ocean University of China, Qingdao, China.
Background: Spermatogenesis is a complex process of cellular differentiation that commences with the division of spermatogonia stem cells, ultimately resulting in the production of functional spermatozoa. However, a substantial gap remains in our understanding of the molecular mechanisms and key driver genes that underpin this process, particularly in invertebrates. The dwarf surfclam (Mulinia lateralis) is considered an optimal bivalve model due to its relatively short generation time and ease of breeding in laboratory settings.
View Article and Find Full Text PDFJ Mol Histol
January 2025
Department of Histology and Embryology, Faculty of Veterinary Medicine, Sivas Cumhuriyet University, Sivas, Türkiye.
Although minimal increases in testicular temperature can compromise spermatogenesis and lead to fertility-related problems, the basic mechanism involved in germ cell destruction as a response to heat stress is still unclear. However, necroptosis is known to regulate a number of physiological and pathological events. This study investigated the role of RIPK1/RIPK3 and MLKL, the main regulators of necroptosis, against different heat stresses in testis tissue.
View Article and Find Full Text PDFBiochem Biophys Res Commun
January 2025
Department of Cardiology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, PR China. Electronic address:
Background: Atrial fibrillation (AF) is a common cardiac arrhythmia that is characterized by atrial electrical remodeling. The P2X7 receptor (P2X7R), an ATP-gated ion channel, has been implicated in cardiovascular pathologies; however, its role in atrial electrical remodeling remains unclear. This study investigated whether inhibition of P2X7R could mitigate isoproterenol (ISO)-induced atrial electrical remodeling in rats and explored the underlying mechanisms.
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