马塞洛·阿尔达兹，医学博士，博士

▪乳腺癌遗传学。▪激素致癌作用。▪乳腺癌小鼠模型。▪WWOX在癌症和其他人类病理中的作用。1.导管原位癌(DCIS)是乳腺浸润性导管癌的癌前病变。重要的是，目前还没有可靠的生物标记物来区分进展几率较高的DCIS病变与不太可能进展的病变。因此，准确的患者分层需要特异性的生物标记物，以使患者从接受不必要的积极治疗中获益，反之亦然，以确定那些在标准治疗后需要更密切监测的患者。目前，Aldaz实验室正致力于采用综合方法来描述DCIS病变的基因组、转录组和甲基组特征，目的是识别发生在乳腺癌进展侵袭前阶段的关键驱动突变、表观遗传变化和基因表达改变。这些研究将有助于识别具有极大潜力的新型生物标志物，以更好地对DCIS患者进行分层，同时有望影响DCIS患者的临床管理，并导致基于理论基础的靶向治疗方法的发展。 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.

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授予学位教育