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Ploidy andLarge-Scale GenomicInstabilityConsistently IdentifyBasal-like BreastCarcinomas withBRCA1/2 Inactivation Tatiana PopovaÉlodie ManiéGuillaume Rieunier2012 год

Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation
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Аннотация: Abstract BRCA1 inactivation is a frequent event in basal-like breast carcinomas (BLC). However, BRCA1 can be inactivated by multiple mechanisms and determining its status is not a trivial issue. As an alternate approach, we profiled 65 BLC cases using single-nucleotide polymorphism arrays to define a signature of BRCA1-associated genomic instability. Large-scale state transitions (LST), defined as chromosomal break between adjacent regions of at least 10 Mb, were found to be a robust indicator of BRCA1 status in this setting. Two major ploidy-specific cutoffs in LST distributions were sufficient to distinguish highly rearranged BLCs with 85% of proven BRCA1-inactivated cases from less rearranged BLCs devoid of proven BRCA1-inactivated cases. The genomic signature we defined was validated in a second independent series of 55 primary BLC cases and 17 BLC-derived tumor cell lines. High numbers of LSTs resembling BRCA1-inactivated BLC were observed in 4 primary BLC cases and 2 BLC cell lines that harbored BRCA2 mutations. Overall, the genomic signature we defined predicted BRCA1/2 inactivation in BLCs with 100% sensitivity and 90% specificity (97% accuracy). This assay may ease the challenge of selecting patients for genetic testing or recruitment to clinical trials of novel emerging therapies that target DNA repair deficiencies in cancer. Cancer Res; 72(21); 5454–62. ©2012 AACR.
Год издания: 2012
Авторы: Tatiana Popova, Élodie Manié, Guillaume Rieunier, Virginie Caux‐Moncoutier, Carole Tirapo, Thierry Dubois, Olivier Delattre, Brigitte Sigal‐Zafrani, Marc A. Bollet, Michel Longy, Claude Houdayer, Xavier Sastre‐Garau, Anne Vincent‐Salomon, Dominique Stoppa‐Lyonnet, Marc‐Henri Stern
Издательство: American Association for Cancer Research
Источник: Cancer Research
Ключевые слова: BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms
Другие ссылки: Cancer Research (HTML)
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doi.org (HTML)
aacr.figshare.com (PDF)
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