Mario Capasso is Professor of Medical Genetics at University of Naples Federico II where he and his research group investigate the genetic causes of neuroblastoma. His research interests are focused on translational genomics in pediatric cancers. He has the expertise in bioinformatics and in vitro functional analysis of genomic data obtained by diverse methodological approaches such as SNP array, qPCR, Gene Expression array, Next Generation Sequencing. He has been able to identify the several neuroblastoma susceptibility genes (BARD1, NEFL, LIN28B). He has performed the first Italian Next Generation Sequencing of neuroblastoma that revealed somatic mutations that affect key pathways involved in cancer progression. Moreover, he has performed the first Italian Whole Genome Sequencing of neuroblastoma showing that noncoding mutations, affecting regulatory elements, can have a role in NB development.
Head of Bioinformatics Service for NGS
Neuroblastoma is one of the most frequent solid tumors of childhood with very low survival rates. The aim of our research is to understand the complex interaction between inherited genetic variation and that acquired at the tumor level and therefore to understand its effect on carcinogenesis, tumor progression and on the response to therapy. The results of our research are expanding clinically useful genetic and biological knowledge as biomarkers to predict disease prognosis and as targets for new therapies.
1. Genetic predisposition to neuroblastoma. Identification of inherited genetic variation that predisposes to the development of neuroblastoma through large-scale genome analysis (next generation sequencing and genome-wide association studies).
2. Coding and non-coding mutations in neuroblastoma. Identification of somatic tumor mutations by computational analysis of genomic data obtained by whole genome sequencing.
3. Liquid biopsy. Develop a non-invasive diagnostic method to identify tumor mutations and predict the prognosis using the patient's plasma.
4. Mutations and their biological role in cancer. Characterization of the functional effect of genetic mutations on tumor biology through studies of functional genomics and cell biology.
- Flora Cimmino, PhD
- Marianna Avitabile, PhD
- Alessandro Vito Lasorsa, PhD student
- Sueva Cantalupo, Borsista
- Annalura Montella, Borsista
- Teresa Maiorano, PhD Student
- Dalila Capasso, Student
- Teresa Imperatore, Student
- Umberto Esposito, Student
1) Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet. 2009 Jun;41(6):718-23.
2) Diskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris JM. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet. 2012 Oct;44(10):1126-30.
3) Capasso M, Diskin SJ, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM. Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Res. 2014 1;74(23):6913-24.
4) Lasorsa VA, Formicola D, Pignataro P, Cimmino F, Calabrese FM, Mora J, Esposito MR, Pantile M, Zanon C, De Mariano M, Longo L, Hogarty MD, de Torres C, Tonini GP, Iolascon A. Capasso M. Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression. Oncotarget. 2016 Mar 18. doi: 10.18632/oncotarget.8187.
5) Capasso M, Lasorsa VA, Cimmino F, Avitabile M, Cantalupo S, Montella A, De Angelis B, Morini M, de Torres C, Castellano A, Locatelli F, Iolascon A. Transcription factors involved in tumorigenesis are over-represented in mutated active DNA binding sites in neuroblastoma. Cancer Res. 2019 Nov 29. pii: canres.2883.2019