C. Marcelo Aldaz, M.D., Ph.D.
Present Title & Affiliation
▪ Breast cancer genetics.
▪ Hormonal carcinogenesis.
▪ Breast cancer mouse models.
▪ Role of WWOX in cancer and other human pathologies.
1. Ductal Carcinoma in situ (DCIS) is by definition a cancerous precursor lesion to Invasive Ductal Carcinoma of the breast. Importantly, there are no reliable biomarkers to facilitate the distinction of DCIS lesions with higher chance of progression versus those lesions that are unlikely to progress. Thus, specific biomarkers for accurate patient stratification are needed to benefit patients from receiving unnecessary aggressive treatments and vice versa to identify those patients that require closer monitoring post standard treatment. Currently the Aldaz laboratory is engaged in comprehensive approaches to characterize the genome, transcriptome and methylome of DCIS lesions with the goal of identifying key driver mutations, epigenetic changes and gene expression alterations that occur at pre-invasive stages of breast cancer progression. These studies will lead to the identification of novel biomarkers with great potential to better stratify DCIS patients while hopefully impacting clinical management of DCIS patients while leading to the development of rationale based targeted therapeutic approaches.
2. Several years ago the Aldaz laboratory discovered a putative tumor suppressor gene (WWOX) affected in breast and many other cancers. This gene spans the second most common chromosomal fragile site, FRA16D and as consequence is frequently affected by genomic abnormalities and chromosomal rearrangements. A mouse conditional KO model has been developed for better understanding the role of WWOX in cancer.
Interestingly, the WWOX locus was also shown to be a target in familial dyslipidemias and metabolic syndrome related conditions. Indeed, we recently demonstrated that WWOX modulates HDL metabolism and lipoprotein gene expression.
In other recent collaborative studies it has been confirmed that WWOX is found mutated in a new form of autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
In summary, multiple approaches are being pursued at Dr. Aldaz's lab to understand the role of WWOX not only in cancer but also in other important human pathological conditions.
Education & Training
|1983||University of Buenos Aires Medical School, Buenos Aires, Argentina, PHD, Doctor in Medical Sciences|
|1980||University of Buenos Aires Medical School, Buenos Aires, Argentina, MD, Medicine|
Last updated: 12/1/2015