Title: Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways
Authors: Leunen, Karin
Gevaert, Olivier
Daemen, Anneleen
Vanspauwen, Vanessa
Michils, Geneviève
De Moor, Bart
Moerman, Philippe
Vergote, Ignace
Legius, Eric # ×
Issue Date: Dec-2009
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:30 issue:12 pages:1693-1702
Abstract: Array CGH was used to identify recurrent copy number alterations (RCNA) characteristic of either BRCA1-related or sporadic ovarian cancer. After preprocessing, both groups of patients were modeled using a recurrent Hidden Markov Model to detect RCNA. RCNA with a probability higher than 80% were called. After removing RCNA present in both groups, the genes present in the remaining RCNA were investigated for enrichment of pathways from external databases. More RCNA were observed in the BRCA1 group, and they display more losses than gains compared to the sporadic group. When focusing on the type of RCNA, no significant difference in length was seen for the gains, but there was a statistically significant difference for the losses. In the sporadic group, a great proportion of the altered regions contain genes known to have a function in cell adhesion and complement activation, whereas the BRCA1 samples are characterized by alterations in the HOX genes, metalloproteinases, tumor suppressor genes, and the estrogen-signaling pathways. We conclude that BRCA1 ovarian tumors present a different type, number, and length of RCNA; a huge amount of the genome is lost, resulting in important genomic instability. Moreover, important biological pathways are altered differentially when compared to the sporadic group.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Gynaecological Oncology
Department of Human Genetics - miscellaneous
Translational Cell & Tissue Research
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
× corresponding author
# (joint) last author

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