Cancer is a disease of the genome with diverse aetiologies including the accumulation of acquired mutations throughout the genome. There has been a flood of knowledge improving our understanding of the biology and molecular genetics of melanoma, lung and colorectal cancer since the genomics era started. Translation of this knowledge into a better understanding of cell proliferation, survival and apoptosis has produced a paradigm shift in medical oncology enabling gene-based cancer treatment (called personalised or precision medicine). Somatic mutation analysis is crucial for a genomics approach since it can identify driver mutations-the "Achilles' heel" of cancer, and support clinical decision-making through targeted therapy. Nevertheless, the applications of somatic DNA testing in cancer face many challenges such as obtaining comprehensive coverage of the cancer genome with limited DNA being available, and delivering an accurate report in a timely fashion without false-negative and false-positive results. Further advances in DNA technologies and bioinformatics will overcome these issues and maximise opportunities for targeted therapy. Somatic mutation analysis will then become an integral part of cancer management for all malignancies.
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http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.04 | DOI Listing |
CRISPR J
January 2025
Plant Biotechnology Research Center, Fudan-SJTU-Nottingham Plant Biotechnology R&D Center, School of Agriculture and Biology, Shanghai Jiao Tong University, Minhang, Shanghai, China.
The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 system has revolutionized targeted mutagenesis, but screening for mutations in large sample pools can be time-consuming and costly. We present an efficient and cost-effective polymerase chain reaction (PCR)-based strategy for identifying edited mutants in the T generation. Unlike previous methods, our approach addresses the challenges of large progeny populations by using T generation sequencing results for genotype prediction.
View Article and Find Full Text PDFHead Neck Pathol
January 2025
Department of Pathology, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Institute of Health Sciences, Department of Medical and Surgical Research, Hacettepe University, Ankara, Turkey.
Background: La-related protein 7 (LARP7) is a key regulator of RNA metabolism and is thought to play a role in various cellular processes. LARP7 gene autosomal recessive mutations are the cause of Alazami syndrome, which presents with skeletal abnormalities, intellectual disabilities, and facial dysmorphisms. This study aimed to determine the role of LARP7 in modulating gene expression dynamics during osteogenesis.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Binzhou Medical University School of Nursing, Binzhou, 256603, Shandong, China.
Purpose: RING Finger 187 (RNF187) has recently emerged as a potential contributor to tumorigenesis. However, a comprehensive pan-cancer analysis of RNF187 in human tumors has not been undertaken until now.
Methods: Our study aims to investigate RNF187 expression across 33 different types of human tumors, utilizing data from the TCGA and GTEx databases.
Cancer Med
January 2025
Department of Neurosurgery, Center for Malignant Brain Tumors, National Glioma MDT Alliance, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Background: The 2021 WHO Classification of Central Nervous System Tumors introduces more molecular markers for glioma reclassification, including TERT promoter (TERTp) mutation as a key feature in glioblastoma diagnosis.
Aims: Given the changes in the entities included in each subtype under the new classification, this research investigated the distribution, prognostic value, and correlations with other molecular alterations of TERTp mutation in different subgroups under this latest classification.
Methods: All glioma patients admitted to Peking Union Medical College Hospital for surgical resection or biopsy from 2011 to 2022 were included.
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