scholarly journals Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples

Oncotarget ◽  
2016 ◽  
Vol 7 (38) ◽  
pp. 61845-61859 ◽  
Author(s):  
Márton Zsolt Enyedi ◽  
Gábor Jaksa ◽  
Lajos Pintér ◽  
Farkas Sükösd ◽  
Zoltán Gyuris ◽  
...  
Keyword(s):  
Simultaneous Detection ◽  
Genomic Rearrangements ◽  
Brca Mutations ◽  
Large Genomic Rearrangements ◽  
Ffpe Tumor

scholarly journals 5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3171
Author(s):  
Sandrine M. Caputo ◽  
Dominique Telly ◽  
Adrien Briaux ◽  
Julie Sesen ◽  
Maurizio Ceppi ◽  
...  
Keyword(s):  
Brca1 Gene ◽  
Genomic Rearrangements ◽  
Comparative Genomic ◽  
Homologous Region ◽  
Exon 2 ◽  
Large Genomic Rearrangements ◽  
Causality Score ◽  
Frequent Site ◽  
First Time ◽  
Intron 2

Background: Large genomic rearrangements (LGR) in BRCA1 consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5′ region from the promoter to exon 2. The aim of this study was to better characterize those LGR in French high-risk breast/ovarian cancer families. Methods: DNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing. Results: The apparent duplication was in fact a tandem triplication of exons 1 and 2 and part of intron 2 of BRCA1, fully characterized here for the first time. We calculated a causality score with the multifactorial model from data obtained from six families, classifying this variant as benign. Among the nine deletions detected in this region, eight have never been identified. The breakpoints fell in six recurrent regions and could confirm some specific conformation of the chromatin. Conclusions: Taken together, our results firmly establish that the BRCA1 5′ region is a frequent site of different LGRs and highlight the importance of the segmental duplication and Alu sequences, particularly the very high homologous region, in the mechanism of a recombination event. This also confirmed that those events are not systematically deleterious.

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients

2018 ◽  
Vol 23 (1) ◽  
pp. 121-126 ◽  
Author(s):  
Roberta Rizza ◽  
Karl Hackmann ◽  
Ida Paris ◽  
Angelo Minucci ◽  
Rossella De Leo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Genomic Rearrangements ◽  
Large Genomic Rearrangements

scholarly journals Large genomic rearrangements and germline epimutations in Lynch syndrome

2009 ◽  
Vol 124 (10) ◽  
pp. 2333-2340 ◽  
Author(s):  
Annette Gylling ◽  
Maaret Ridanpää ◽  
Outi Vierimaa ◽  
Kristiina Aittomäki ◽  
Kristiina Avela ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genomic Rearrangements ◽  
Large Genomic Rearrangements
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