Results 41 to 50 of about 946 (139)

Additional file 1 of Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

, 2022
Additional file 1 Additonal genomic data.
Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon   +8 more
openaire   +1 more source

The Genomics of Prostate Cancer: emerging understanding with technologic advances. [PDF]

, 2018
With the advent of next-generation sequencing technologies and large whole-exome and genome studies in prostate and other cancers, our understanding of the landscape of genomic alterations has dramatically been refined.
Rubin, Mark Andrew, Demichelis, Francesca, Mark A Rubin, Francesca Demichelis   +3 more
core   +2 more sources

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

BMC Cancer, 2018
Background HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. Methods We interrogated the genomic structure of 18 clinically-defined HER2+ breast tumors through integrated analysis of ...
George Vasmatzis, Xue Wang, James B. Smadbeck, Stephen J. Murphy, Katherine B. Geiersbach, Sarah H. Johnson, Athanasios G. Gaitatzes, Yan W. Asmann, Farhad Kosari, Mitesh J. Borad, Daniel J. Serie, Sarah A. McLaughlin, Jennifer M. Kachergus, Brian M. Necela, E. Aubrey Thompson   +14 more
doaj   +1 more source

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

Molecular Cytogenetics, 2019
Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events.
Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley, Ying Zou   +7 more
doaj   +1 more source

The Iceberg under Water:Unexplored Complexity of Chromoanagenesis in Congenital Disorders [PDF]

, 2019
Structural variation, composed of balanced and unbalanced genomic rearrangements, is an important contributor to human genetic diversity with prominent roles in somatic and congenital disease.
Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.; id_orcid   +1 more
core   +1 more source

A Maximum Parsimony Principle for Multichromosomal Complex Genome Rearrangements [PDF]

, 2022
Motivation. Complex genome rearrangements, such as chromothripsis and chromoplexy, are common in cancer and have also been reported in individuals with various developmental and neurological disorders. These mutations are proposed to involve simultaneous
Simonaitis, Pijus, Raphael, Benjamin J., Raphael, Benjamin J   +2 more
core   +1 more source

Exploring tumour evolution through mutational patterns in bone tumours [PDF]

, 2020
Cancer is a continuation of the evolutionary process on a cellular scale. The mutations that define this evolutionary process show a marked variety of complexity, which I have explored in this work. First, I have explored the genomics of osteoblastoma, a
Fittall, Matthew
core   +1 more source

Germline Risk Contribution to Genomic Instability in Multiple Myeloma

Frontiers in Genetics, 2019
Genomic instability, a well-established hallmark of human cancer, is also a driving force in the natural history of multiple myeloma (MM) – a difficult to treat and in most cases fatal neoplasm of immunoglobulin producing plasma cells that reside in the ...
Siegfried Janz, Fenghuang Zhan, Fenghuang Zhan, Fumou Sun, Yan Cheng, Michael Pisano, Michael Pisano, Ye Yang, Ye Yang, Hartmut Goldschmidt, Hartmut Goldschmidt, Parameswaran Hari   +11 more
doaj   +1 more source

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors [PDF]

, 2018
Sarcomas are cancers of the bone and soft tissue often defined by gene fusions. Ewing sarcoma involves fusions between EWSR1, a gene encoding an RNA binding protein, and E26 transformation-specific (ETS) transcription factors.
Scherer, SW, Said, BI, Gokgoz, N, Hajjar, S, Sitter, J, Fullam, A, de Borja, R, Shago, M, Yoshida, A, Pillay, N, Shibata, T, Davidson, S, Schiffman, JD, Anderson, ND, Fuligni, F, Somers, GR, Toretsky, JA, Young, MD, Andrulis, IL, Rosic, A, Layeghifard, M, Alexandrov, LB, Schreiner, LC, Flanagan, AM, Zarrei, M, Malkin, D, Campbell, PJ, Brunga, L, Shlien, A, Novokmet, A, Graham, GT, Kowalski, PE, Metzler, M, Behjati, S, Roberts, ND, Anaka, M, Marchand, R, Wunder, JS   +37 more
core   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT 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. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source