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Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer

The study aims to identify the relevance of immunohistochemistry (IHC), copy number aberrations (CNA) and epigenetic disorders in BRCAness breast cancers (BCs). We studied 95 paraffin included BCs, of which 41 carried BRCA1/BRCA2 germline mutations and 54 were non hereditary (BRCAX/Sporadic). Sample...

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Published in:Familial cancer 2016-04, Vol.15 (2), p.193-200
Main Authors: Murria Estal, Rosa, Palanca Suela, Sarai, de Juan Jiménez, Inmaculada, Alenda Gonzalez, Cristina, Egoavil Rojas, Cecilia, García-Casado, Zaida, López Guerrero, Jose Antonio, Juan Fita, María José, Sánchez Heras, Ana Beatriz, Segura Huerta, Ángel, Santaballa Bertrán, Ana, Chirivella González, Isabel, Llop García, Marta, Pérez Simó, Gema, Barragán González, Eva, Bolufer Gilabert, Pascual
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Language:English
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Summary:The study aims to identify the relevance of immunohistochemistry (IHC), copy number aberrations (CNA) and epigenetic disorders in BRCAness breast cancers (BCs). We studied 95 paraffin included BCs, of which 41 carried BRCA1/BRCA2 germline mutations and 54 were non hereditary (BRCAX/Sporadic). Samples were assessed for BRCA1ness and CNAs by Multiplex Ligation-dependent Probe Amplification (MLPA); promoter methylation (PM) was assessed by methylation-specific-MLPA and the expression of miR-4417, miR-423-3p, miR-590-5p and miR-187-3p by quantitative RT-PCR. IHC markers Ki67, ER, PR, HER2, CK5/6, EGFR and CK18 were detected with specific primary antibodies (DAKO, Denmark). BRCAness association with covariates was performed using multivariate binary logistic regression (stepwise backwards Wald option). BRCA1/2 mutational status ( p  = 0.027), large tumor size ( p  = 0.041) and advanced histological grade ( p  = 0.017) among clinic-pathological variables; ER ( p  
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-015-9864-2