1. Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

    Nature 534(7605):47 (2016) PMID 27135926 PMCID PMC4910866

    We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions...
  2. A DNA methylation-based definition of biologically distinct breast cancer subtypes.

    Molecular Oncology 9(3):555 (2015) PMID 25468711

    In cancer, epigenetic states are deregulated and thought to be of significance in cancer development and progression. We explored DNA methylation-based signatures in association with breast cancer subtypes to assess their impact on clinical presentation and patient prognosis. DNA methylation was...
  3. Aurora A is a prognostic marker for breast cancer arising in BRCA2 mutation carriers.

    The Journal of Pathology: Clinical Research 1(1):33 (2015) PMID 27499891

    Overexpression of the Aurora A kinase has been shown to have prognostic value in breast cancer. Previously, we showed a significant association between AURKA gene amplification and BRCA2 mutation in breast cancer. The aim of this study was to assess the prognostic impact of Aurora A overexpressi...
  4. A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition.

    Cancer Research 74(19):5608 (2014) PMID 25106427

    Epithelial-to-mesenchymal transition (EMT) is a plastic process in which fully differentiated epithelial cells are converted into poorly differentiated, migratory and invasive mesenchymal cells, and it has been related to the metastasis potential of tumors. This is a reversible process and cells...
  5. Linkage of DNA methylation quantitative trait loci to human cancer risk.

    Cell Reports 7(2):331 (2014) PMID 24703846

    Epigenetic regulation and, in particular, DNA methylation have been linked to the underlying genetic sequence. DNA methylation quantitative trait loci (meQTL) have been identified through significant associations between the genetic and epigenetic codes in physiological and pathological contexts...
  6. CARM1 and BAF155: an example of how chromatin remodeling factors can be relocalized and contribute to cancer.

    Breast Cancer Research (Online Edition) 16(3):307 (2014) PMID 25927994 PMCID PMC4053224

    In a recent article, Wang and colleagues reported the discovery of a mechanism by which CARM1 regulates the genomic localization of BAF155 (a SWI/SNF subunit involved in chromatin remodeling) through post-translational methylation at R1064 arginine residues. This modification leads to the reloca...
  7. Epigenetic modifications in breast cancer and their role in personalized medicine.

    The American Journal of Pathology 183(4):1052 (2013) PMID 23899662

    In cancer, the overall patterns of epigenetic marks are severely distorted from the corresponding normal cell type. It is now well established that these changes can contribute to cancer development through inactivation of tumor suppressor genes and, conversely, through activation of oncogenes. ...
  8. Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.

    Breast Cancer Research and Treatment 140(2):375 (2013) PMID 23857704

    It is not well known to what extent carrying a BRCA2 mutation affects the survival of women with breast cancer and prognostic factors among BRCA2-positive women warrant investigation. Using a record linkage approach we compared the long-term survival in carriers and noncarriers of an inherited B...
  9. DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.

    Carcinogenesis 34(1):102 (2013) PMID 23054610 PMCID PMC3534196

    Using whole blood from 15 twin pairs discordant for breast cancer and high-resolution (450K) DNA methylation analysis, we identified 403 differentially methylated CpG sites including known and novel potential breast cancer genes. Confirming the results in an independent validation cohort of 21 t...
  10. BRCA1 epigenetic inactivation predicts sensitivity to platinum-based chemotherapy in breast and ovarian cancer.

    Epigenetics 7(11):1225 (2012) PMID 23069641 PMCID PMC3499323

    Germline mutations in the BRCA1 or BRCA2 genes are associated with an increased risk of breast and ovarian cancer development. Both genes are involved in DNA repair, and tumors harboring genetic defects in them are thought to be more sensitive to DNA-damaging agents used in chemotherapy. However...
  11. Re: A DNA repair pathway-focused score for prediction of outcomes in ovarian cancer treated with platinum-based chemotherapy.

    JNCI Journal of the National Cancer Institute 104(19):1514; author reply 1514 (2012) PMID 22923512

  12. Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression.

    Breast Cancer Research (Online Edition) 13(5):R95 (2011) PMID 21958427 PMCID PMC3262207

    Inherited mutations in the BRCA2 gene greatly increase the risk of developing breast cancer. Consistent with an important role for BRCA2 in error-free DNA repair, complex genomic changes are frequently observed in tumors derived from BRCA2 mutation carriers. Here, we explore the impact of DNA co...
  13. Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer.

    Breast Cancer Research (Online Edition) 8(4):R38 (2006) PMID 16846527 PMCID PMC1779478

    BRCA1 or BRCA2 germline mutations increase the risk of developing breast cancer. Tumour cells from germline mutation carriers have frequently lost the wild-type allele. This is predicted to result in genomic instability where cell survival depends upon dysfunctional checkpoint mechanisms. Tumori...