Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.
<h4>Introduction</h4>Germline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low.<h4>Methods</h4&g...
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2012
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oai:doaj.org-article:2eb48b9506784ef49d11558558e0dc622021-11-18T08:03:58ZDeletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.1932-620310.1371/journal.pone.0052079https://doaj.org/article/2eb48b9506784ef49d11558558e0dc622012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23284877/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Introduction</h4>Germline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low.<h4>Methods</h4>To develop more efficient approaches to screening we have compared the gene expression and genomic profiles of BRCA2-mutant breast tumors with those of breast tumors lacking BRCA1 or BRCA2 mutations.<h4>Results</h4>We identified a group of 66 genes showing differential expression in our training set of 7 BRCA2-mutant tumors and in an independent validation set of 19 BRCA2-mutant tumors. The differentially expressed genes include a prominent cluster of genes from chromosomes 13 and 14 whose expression is reduced. Gene set enrichment analysis confirmed that genes in specific bands on 13q and 14q showed significantly reduced expression, suggesting that the affected bands may be preferentially deleted in BRCA2-mutant tumors. Genomic profiling showed that the BRCA2-mutant tumors indeed harbor deletions on chromosomes 13q and 14q. To exploit this information we have created a simple fluorescence in situ hybridization (FISH) test and shown that it detects tumors with deletions on chromosomes 13q and 14q.<h4>Conclusion</h4>Together with previous reports, this establishes that deletions on chromosomes 13q and 14q are a hallmark of BRCA2-mutant tumors. We propose that FISH to detect these deletions would be an efficient and cost-effective first screening step to identify potential BRCA2-mutation carriers among breast cancer patients without a family history of breast cancer.Audrey RouaultGuillaume BanneauGaëtan MacgroganNatalie JonesNabila ElarouciEmmanuelle Barouk-SimonetLaurence VenatIsabelle CoupierEric LetouzéAurélien de ReynièsFrançoise BonnetRichard IggoNicolas SévenetMichel LongyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 12, p e52079 (2012) |
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Medicine R Science Q |
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Medicine R Science Q Audrey Rouault Guillaume Banneau Gaëtan Macgrogan Natalie Jones Nabila Elarouci Emmanuelle Barouk-Simonet Laurence Venat Isabelle Coupier Eric Letouzé Aurélien de Reyniès Françoise Bonnet Richard Iggo Nicolas Sévenet Michel Longy Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| description |
<h4>Introduction</h4>Germline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low.<h4>Methods</h4>To develop more efficient approaches to screening we have compared the gene expression and genomic profiles of BRCA2-mutant breast tumors with those of breast tumors lacking BRCA1 or BRCA2 mutations.<h4>Results</h4>We identified a group of 66 genes showing differential expression in our training set of 7 BRCA2-mutant tumors and in an independent validation set of 19 BRCA2-mutant tumors. The differentially expressed genes include a prominent cluster of genes from chromosomes 13 and 14 whose expression is reduced. Gene set enrichment analysis confirmed that genes in specific bands on 13q and 14q showed significantly reduced expression, suggesting that the affected bands may be preferentially deleted in BRCA2-mutant tumors. Genomic profiling showed that the BRCA2-mutant tumors indeed harbor deletions on chromosomes 13q and 14q. To exploit this information we have created a simple fluorescence in situ hybridization (FISH) test and shown that it detects tumors with deletions on chromosomes 13q and 14q.<h4>Conclusion</h4>Together with previous reports, this establishes that deletions on chromosomes 13q and 14q are a hallmark of BRCA2-mutant tumors. We propose that FISH to detect these deletions would be an efficient and cost-effective first screening step to identify potential BRCA2-mutation carriers among breast cancer patients without a family history of breast cancer. |
| format |
article |
| author |
Audrey Rouault Guillaume Banneau Gaëtan Macgrogan Natalie Jones Nabila Elarouci Emmanuelle Barouk-Simonet Laurence Venat Isabelle Coupier Eric Letouzé Aurélien de Reyniès Françoise Bonnet Richard Iggo Nicolas Sévenet Michel Longy |
| author_facet |
Audrey Rouault Guillaume Banneau Gaëtan Macgrogan Natalie Jones Nabila Elarouci Emmanuelle Barouk-Simonet Laurence Venat Isabelle Coupier Eric Letouzé Aurélien de Reyniès Françoise Bonnet Richard Iggo Nicolas Sévenet Michel Longy |
| author_sort |
Audrey Rouault |
| title |
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| title_short |
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| title_full |
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| title_fullStr |
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| title_full_unstemmed |
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. |
| title_sort |
deletion of chromosomes 13q and 14q is a common feature of tumors with brca2 mutations. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/2eb48b9506784ef49d11558558e0dc62 |
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