Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations

Agata, Simona, Viel, Alessandra, Della Puppa, Lara, Cortesi, Laura, Fersini, Giusi, Callegaro, Monia, Palma, Maurizia Dalla, Dolcetti, Riccardo, Federico, Massimo, Venuta, Salvatore, Miolo, Gianmaria, D'Andrea, Emma and Montagnas, Marco (2006) Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes, Chromosomes & Cancer, 45 9: 791-797. doi:10.1002/gcc.20342


Author Agata, Simona
Viel, Alessandra
Della Puppa, Lara
Cortesi, Laura
Fersini, Giusi
Callegaro, Monia
Palma, Maurizia Dalla
Dolcetti, Riccardo
Federico, Massimo
Venuta, Salvatore
Miolo, Gianmaria
D'Andrea, Emma
Montagnas, Marco
Title Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
Formatted title
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
Journal name Genes, Chromosomes & Cancer   Check publisher's open access policy
ISSN 1045-2257
1098-2264
Publication date 2006-09-01
Sub-type Article (original research)
DOI 10.1002/gcc.20342
Open Access Status Not yet assessed
Volume 45
Issue 9
Start page 791
End page 797
Total pages 7
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement of this mutation type in genetic predisposition to breast and ovarian cancer. Population-specific studies are now needed to evaluate the prevalence of genomic rearrangements before deciding whether to include ad hoc screening procedures into standard diagnostic mutation detection approaches. Indeed, the vast majority of the studies have been performed on small, highly selected, sample sets because of the limitations imposed by the laborious technical approaches. Moreover, prevalence figures are likely to differ across different: countries according to the ethnic origin of each specific population. Here we analyze a large cohort of 653 Italian probands, negative for BRCA1 and BRCA2 point mutations, gathered from four National Institutions. We report the identification of BRCA1 genomic rearrangements in 12 independent families. Noteworthy, half of the probands carry mutations that recur in more than one Italian family. Considering the whole spectrum of Italian BRCA1 gene rearrangements identified thus far in consecutive patients, we estimate that alterations of this type account for 19% (95% CI: 0.11 < 0.19 < 0.28) of the BRCA1 mutation positive families. We conclude that the search for major genomic rearrangements is essential for an accurate and comprehensive BRCA1 mutation detection strategy in Italy.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 31 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 32 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Sat, 28 Nov 2015, 05:19:11 EST by System User on behalf of Learning and Research Services (UQ Library)