Results 21 to 30 of about 331 (102)

Participation of retroelements in chromoanagenesis in cancer development [PDF]

Сибирский онкологический журнал
Purpose of the study: to determine the role of retroelements in chromoanagenesis mechanisms in cancer etiopathogenesis.Material and Methods. The search for relevant sources was carried out in the Scopus, Web of Science, PubMed, Elibrary systems ...
R. N. Mustafin
doaj   +2 more sources

Additional file 1: of Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2+ breast cancer samples

, 2018
Figure S1-S17. Genome U plots of all the additional cases. Figure S18 Heat map of the EGFR and ERBB3 expression log2 expression by RNAseq. Dark red indicates low expression where yellow indicates high expression. Table S1 BRISQ summary of tumor specimens. (PPTX 3536 kb)
Vasmatzis, George, Wang, Xue, Smadbeck, James, Murphy, Stephen, Geiersbach, Katherine, Johnson, Sarah, Gaitatzes, Athanasios, Asmann, Yan, Kosari, Farhad, Mitesh Borad, Serie, Daniel, McLaughlin, Sarah, Kachergus, Jennifer, Necela, Brian, E. Thompson   +14 more
openaire   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline. [PDF]

Am J Med Genet A
The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies.
Helle K, Bengtsson JD, Gandhi M, Grochowski CM, Lun MY, Sudhir N, Jhangiani SN, Sedlazeck FJ, Lalani SR, Hanchard NA, Carvalho CMB.   +10 more
europepmc   +2 more sources

Insight into the Molecular Basis Underlying Chromothripsis [PDF]

International Journal of Molecular Sciences, 2022
Monika Lejman
exaly   +2 more sources

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case. [PDF]

Eur J Hum Genet
We reanalyzed through a cytogenomics approach a case published 20 years ago, describing a girl with developmental delay and epilepsy. Karyotype and FISH analysis showed a de novo 2.3 Mb terminal inverted-duplication at 8q24.3.
Salvo E, Tenconi R, Giorda R, Bertuzzo S, Cesana L, Murru R, Giglio S, Mehrjouy MM, Tommerup N, Zuffardi O, Bonaglia MC.   +10 more
europepmc   +2 more sources

Chromosome aberrations cause tumorigenesis through chromosomal rearrangements in a hepatocarcinogenesis rat model. [PDF]

Cancer Sci
The pure chromosome aberration‐inducer acetamide caused hepatocarcinogenesis in a rat model through chromosomal rearrangements characterized by copy number alterations and structural alterations. The chromosomal rearrangements induced some specific oncogene amplifications in hepatic tumors.
Nakamura K, Ishii Y, Takasu S, Namiki M, Soma M, Takimoto N, Matsushita K, Shibutani M, Ogawa K.   +8 more
europepmc   +2 more sources

αS-SETMAR: Inducing Protective Chaos in Glioblastoma? [PDF]

Cancers (Basel)
Background/Objectives: Glioblastoma remains the most aggressive and lethal form of brain cancer, with no effective cure to date. The molecular mechanisms sustaining its development and relentless proliferation are still not fully understood.
David SA, Benharrat S, Lié O, Dufresne A, Jaillet J, Genty M, Renault S, Augé-Gouillou C.   +7 more
europepmc   +2 more sources

Unravelling the tumour genome: The evolutionary and clinical impacts of structural variants in tumourigenesis

The Journal of Pathology, Volume 257, Issue 4, Page 479-493, July 2022., 2022
Abstract Structural variants (SVs) represent a major source of aberration in tumour genomes. Given the diversity in the size and type of SVs present in tumours, the accurate detection and interpretation of SVs in tumours is challenging. New classes of complex structural events in tumours are discovered frequently, and the definitions of the genomic ...
Alhafidz Hamdan, Ailith Ewing
wiley   +1 more source

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

Molecular Genetics &Genomic Medicine, Volume 9, Issue 9, September 2021., 2021
We describe a 12‐year‐old Mexican female presenting de novo mosaicism for a proximal trisomy 13q10‐q14 and a regular trisomy 13 . Her long survival into puberty may be associated with her chromosomal mosaicism composition, which probably derived from a trisomy 13 zygote that underwent a failed trisomic rescue.
Verónica Fabiola Morán‐Barroso, Alicia Cervantes, María del Refugio Rivera‐Vega, Adriana del Castillo‐Moreno, Alejandra Moreno‐Chacón, Estefanía Mejía‐Cauich, Laura Eréndira Contreras‐Ortiz, Fernando Fernández‐Ramírez   +7 more
wiley   +1 more source

Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions. [PDF]

Genes (Basel)
Background/Objectives: Chromosome microarrays (CMAs) tend to be used as the first line test or as a test that does not require confirmation or verification by a second test.
Liehr T, Singer S, Mau-Holzmann U, Kankel S, Padutsch N, Person L, Daumiller E, Kornak U.   +7 more
europepmc   +2 more sources