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Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
medRxiv
January 2024
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria 3010 Australia.
Article Synopsis
- The study investigates the role of a specific mutational signature (SBS88) in colorectal cancer (CRC), which is linked to a bacteria that produces a genotoxin called colibactin.
- About 7.5% of the CRC cases studied were found to be SBS88-positive, with a notable prevalence in the distal colon and rectum, and demonstrated distinct somatic mutations associated with colibactin-induced DNA damage.
- SBS88-positive CRCs were linked to better survival rates compared to negative cases, suggesting this mutational signature could help identify a unique subtype of CRC that may influence treatment and prevention approaches.
Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin.
Taiwan J Obstet Gynecol
September 2020
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.
View Article and Find Full Text PDFA 14q distal chromoanagenesis elucidated by whole genome sequencing.
Eur J Med Genet
April 2020
Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.
Article Synopsis
- Chromoanagenesis involves complex genomic rearrangements with multiple breaks in one or more chromosomes, leading to serious genetic disorders.
- In a case study, a girl exhibited various developmental issues and a karyotype showed structural abnormalities on chromosome 14, suggesting chromoanagenesis occurred.
- Genome sequencing helped identify 50 breakpoints interrupting 10 genes, including the YY1 gene, which is associated with the girl's symptoms, improving understanding of genotype-phenotype relationships.
Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.
Taiwan J Obstet Gynecol
August 2016
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Objective: We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin.
Case Report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a der(9) chromosome of unknown origin. The parental karyotypes were normal.
14q32.3-qter trisomic segment: a case report and literature review.
Mol Cytogenet
August 2016
Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
Background: Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes.
Case Presentation: We report the clinical and genetic characterization of a 4-year-old male patient with 14q32.3-qter trisomy resulting from an adjacent segregation of a paternal reciprocal translocation (14;21)(q32.
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