Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

Joosse, Simon A.; Beers, Erik H. van; Tielen, Ivon H. G.; Horlings, Hugo M.; Peterse, Johannes L.; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J. L.; Wessels, Lodewyk F.A.; Axwijk, Priscilla; Verhoef, Senno; Hogervorst, Frans B.L.; Nederlof, Petra M.

doi:10.1007/s10549-008-0117-z

Cited by 125 publications

(182 citation statements)

References 37 publications

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“…Patients were classified based on their copy number profile to belong to the BRCA1-like class or the non-BRCA1-like class as described before (14,26). These classifiers assign a probability of being BRCA1-mutated (similar to being BRCA1-mutated, thus "BRCA1-like") or non-BRCA1-mutated class (not similar to BRCA1-mutated, thus non-BRCA1-like).…”

Section: Brca1-like Copy Number Classificationmentioning

confidence: 99%

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High XIST and Low 53BP1 Expression Predict Poor Outcome after High-Dose Alkylating Chemotherapy in Patients with a BRCA1-like Breast Cancer

Schouten

Vollebergh

Opdam

et al. 2016

Molecular Cancer Therapeutics

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In previous studies, high expression of XIST and low expression of 53BP1 were respectively associated with poor systemic therapy outcome in patients and therapy resistance in BRCA1-deficient mouse tumor models, but have not been evaluated in BRCA1-deficient patients. Previously, we demonstrated that classifying breast cancer copy number profiles as BRCA1-like or non-BRCA1-like identified patients enriched for defects in BRCA1 that benefit from high-dose (HD) alkylating chemotherapy compared with a conventional standard regimen. We investigated whether XIST and 53BP1 expression predicted poor outcome of HD chemotherapy within 28 BRCA1-like patients from a trial randomizing between HD [4 cycles 5-fluorouracil, epirubicin, cyclophosphamide (FEC) followed by 1 cycle HD carboplatin, thiotepa, cyclophosphamide] or conventional chemotherapy (5 cycles FEC), for which both XIST and 53BP1 statuses were available. High RNA expression of XIST (n ¼ 5) and low protein expression of 53BP1 (n ¼ 3) expression did not coincide. Patients with either one had poor outcome after treatment with HD chemotherapy, whereas patients with low expression of XIST and high expression of 53BP1 derived substantial benefit of this regimen on recurrence-free survival, disease-free survival, and overall survival, corroborating preclinical findings. XIST and 53BP1 may be predictive biomarkers in BRCA1-like breast cancer. Mol Cancer Ther; 15(1); 190-8. Ó2015 AACR.

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Section: Brca1-like Copy Number Classificationmentioning

confidence: 99%

“…We previously investigated a BRCA1-like copy number classifier as predictive biomarker for benefit of HD alkylating chemotherapy (25,26). This test classifies tumors as BRCA1-like or non-BRCA1-like based on the presence of characteristic DNA gains and losses associated with BRCA1-mutated and promoter methylated breast cancers (14,27).…”

Section: Introductionmentioning

confidence: 99%

High XIST and Low 53BP1 Expression Predict Poor Outcome after High-Dose Alkylating Chemotherapy in Patients with a BRCA1-like Breast Cancer

Schouten

Vollebergh

Opdam

et al. 2016

Molecular Cancer Therapeutics

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“…Great interest has therefore been applied to develop 'biomarkers' of HR deficiency based on the pattern of somatic alterations identified in the tumour genome. These genome-based 'tools' utilise either aCGH or SNP array based genome data [64][65][66][67][68][69][70][71] or more recently whole genome sequencing data [91].…”

Section: Clinical Utility Of Mutation Signaturesmentioning

confidence: 99%

Molecular signatures in breast cancer

Lal

Reed

Luca

et al. 2017

Methods

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The use of molecular signatures to add value to standard clinical and pathological parameters has impacted clinical practice in many cancer types, but perhaps most notably in the breast cancer field. This is, in part, due to the considerable complexity of the disease at the clinical, morphological and molecular levels. The adoption of molecular profiling of DNA, RNA and protein continues to reveal important differences in the intrinsic biology between molecular subtypes and has begun to impact the way patients are managed. Several bioinformatic tools have been developed using DNA or RNA-based signatures to stratify the disease into biologically and/or clinically meaningful subgroups. Here, we review the approaches that have been used to develop gene expression signatures into currently available diagnostic assays (e.g. OncotypeDX® and Mammaprint®), plus we describe the latest work on genome sequencing, the methodologies used in the discovery process of mutational signatures, and the potential of these signatures to impact the clinic.

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“…To test the second explanation of Roy and colleagues -whether BRCA1 influences the transcriptional activity of ER -I reanalysed 51 ER-positive luminal breast tumours from an earlier study 8 . A small group (seven of 51) showed a typical BRCA1-like array-comparative genomic hybridization (aCGH) profile (as described elsewhere 9 ), of which most (six of seven) showed clear BRCA1 mRNA downregulation, as determined by quantitative PCR. Although further research is required, these results suggest that ER expression is not affected by the absence of BRCA1.…”

mentioning

confidence: 78%

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

Abstract: We here describe the specific chromosomal aberrations in BRCA1-related breast carcinomas. We developed a predictive genetic test for BRCA1-association and show that BRCA1-related tumours can still be identified in HBOC families after routine DNA diagnostics.

Cited by 125 publications

References 37 publications

High XIST and Low 53BP1 Expression Predict Poor Outcome after High-Dose Alkylating Chemotherapy in Patients with a BRCA1-like Breast Cancer

High XIST and Low 53BP1 Expression Predict Poor Outcome after High-Dose Alkylating Chemotherapy in Patients with a BRCA1-like Breast Cancer

Molecular signatures in breast cancer

BRCA1 and BRCA2: a common pathway of genome protection but different breast cancer subtypes

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