Chromosome deletions are a hallmark of human cancers. These chromosome abnormalities have been observed for over than a century and frequently associated with poor prognosis. However, their functions and potential underlying mechanisms remain elusive until recently. Recent technique breakthroughs, including cancer genomics, high throughput library screening and genome editing, opened a new era in the mechanistic studying of chromosome deletions in human cancer. In this chapter, we will focus on the latest studies on the functions of chromosome deletions in human cancers, especially hematopoietic malignancies and try to persuade the readers that these chromosome alterations could play significant roles in the genesis and drug responses of human cancers.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/978-981-13-0593-1_9 | DOI Listing |
Hematol Oncol
March 2025
Department of Critical Care Medicine, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
This study compares the safety profiles of two Bruton's tyrosine kinase (BTK) inhibitors, Ibrutinib and Zanubrutinib, in patients with chronic lymphocytic leukemia (CLL). While Ibrutinib has transformed CLL treatment, it is associated with significant adverse events (AEs). Zanubrutinib, a second-generation BTK inhibitor, offers potential for improved safety.
View Article and Find Full Text PDFUrol Case Rep
March 2025
Private Practice, Istanbul, Turkiye.
This case report presents a 31-year-old male patient with primary infertility, a unilaterally undescended testicle, and a complete AZFc microdeletion. Despite failed attempts at testicular sperm extraction, the patient underwent successful microscopic testicular sperm extraction and subsequent viable sperm extraction, leading to successful fertilization through intracytoplasmic sperm injection (ICSI). The report underscores the potential for successful ICSI in male infertility cases with complex genetic and reproductive issues, highlighting the importance of comprehensive genetic evaluation and individualized reproductive techniques in managing male infertility associated with undescended testicle and genetic anomalies.
View Article and Find Full Text PDFJMIRx Med
January 2025
Department of Biochemistry and Medical Genetics, Cancer Center, University of Illinois Chicago, 900 s Ashland, Chicago, IL, 60617, United States, 1 8479124216.
Background: The causes of breast cancer are poorly understood. A potential risk factor is Epstein-Barr virus (EBV), a lifelong infection nearly everyone acquires. EBV-transformed human mammary cells accelerate breast cancer when transplanted into immunosuppressed mice, but the virus can disappear as malignant cells reproduce.
View Article and Find Full Text PDFWe lack tools to edit DNA sequences at scales necessary to study 99% of the human genome that is noncoding. To address this gap, we applied CRISPR prime editing to insert recombination handles into repetitive sequences, up to 1697 per cell line, which enables generating large-scale deletions, inversions, translocations, and circular DNA. Recombinase induction produced more than 100 stochastic megabase-sized rearrangements in each cell.
View Article and Find Full Text PDFGenetics
January 2025
Donald Danforth Plant Science Center, St. Louis, MO 63132, USA.
Forward genetic screens of mutant populations are fundamental for functional genomics studies. However, isolating independent mutant alleles to molecularly identify causal genes is challenging in species recalcitrant to genetic manipulation. Here, we demonstrate that classic seed EMS mutagenesis coupled with genome sequencing can overcome this limitation in sorghum.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!