Universitą degli studi di Pavia
Contenuto della pagina
Marabelli's M curriculum
Curriculum
Personal Data
Name: Monica Marabelli
Address: via Lanzani 11, 27100 Pavia
Date and Place of Birth: 11/05/1988, Pavia
Mobile: 3488562516
E-mail: monica.marabelli01@universitadipavia.it
Nationality: Italian
Education and Qualifications
2012-2015
PhD Student in Genetics, Molecular and Cellular Biology, University of Pavia
Experimental thesis: “Hereditary tumors: a molecular and statistical approach for the analysis of susceptibility genes”
Lab. Human Genetics - Cancer Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
2012
Biology license, following the professional state exam-University of Pavia
2010-2012
Master’s Degree in Experimental and Applied Biology, University of Pavia
Experimental thesis: “CDH1 gene variants in hereditary gastric cancer (HDGC): molecular and bioinformatic analysis”
Lab. Human Genetics - Cancer Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
Degree Session: June 2012
Grade: 110/110 cum laude
2007-2010
Bachelor’s Degree in Biological Sciences, University of Pavia
Experimental thesis: “Y1 and Y2 haplogroups in Italian cattle”
Lab. Animal Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. L. Ferretti
Degree Session: July 2010
Grade: 110/110 cum laude
2002-2007
High School Diploma, “Liceo classico-Ugo Foscolo”, Pavia
Grade: 100/100 cum laude
Research and professional experience
November 2012-October 2015: PhD Fellow in the Laboratory of Human Genetics-Cancer Genetics, Department of Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
Main research activity: molecular analysis of constitutive defects in genes predisposing to the development of colorectal and gastric cancers.
January-May 2015: Visiting PhD student at the Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Supervisor: Prof. G. Parmigiani.
Main research activity: development of a statistical model allowing integration of different types of cancer risks and estimation of breast cancer penetrance associated with germline ATM gene mutations.
2014: Member of the examination board for undergraduate students in “Human Molecular Genetics”
2013-2014: Co-supervisor of the Master’s Degree thesis: “POLE and POLD1 genes in colorectal cancer predisposition”
May 2013, 2014 and June 2015: Laboratory lecturer of “Bioinformatics for Human Molecular Genetics” during the Master Program in “Medical and Genomic Statistics”
2011-2014: Tutor of “Genetics” for students pursuing a Bachelor’s Degree in Biotechnology
2010-2011: Tutor of “Human Anatomy” for students pursuing a Bachelor’s Degree in Biological Sciences
Languages
Italian: mother tongue; English (reading, writing and speaking): upper intermediate.
Laboratory techniques
- DNA and RNA extraction from biological samples;
- Purification, quantification and quality assessment of nucleic acids;
- PCR;
- Reverse-Transcription PCR;
- RealTime RT-PCR;
- DNA analysis by restriction enzymes;
- Gel electrophoresis;
- SNuPE (Single-Nucleotide Primer Extension);
- MLPA (Multiplex Ligation-dependent Probe Amplification);
- DNA Sequencing;
- DNA Sequence analysis.
Informatic and bioinformatic skills
Excellent knowledge of Microsoft Office tools: Word, Excel and Power Point.
Good knowledge of LaTeX software.
Bioinformatics programs and resources: NCBI (Entrez, Pubmed, OMIM, ClinVar, Nucleotide, dbSNP, Gene, Protein); Ensembl, BLAST, ClustalW2, ORF finder, Mutation Taster, Polyphen2, SIFT, NETGENE2, NNSplice, SROOGLE.
Intermediate knowledge of statistical software: e.g. "R".
Research project
Hereditary tumors: a molecular and statistical approach for the analysis of susceptibility genes
My main research activity is aimed at identifying the genetic predisposition to colorectal and gastric cancers. More specifically, I search for constitutive defects of CDH1 gene in patients with Hereditary Diffuse Gastric Cancer, as well as of POLE and POLD1 genes in patients with familial multiple adenomatous polyposis and/or colorectal cancer.
In addition, I developed a statistical model allowing the meta-analytic integration of different measures of cancer risks (i.e. penetrance, RR, SIR and OR) and I applied this model to estimate the penetrance of heterozygous ATM gene mutations in breast cancer.
Publications and Communications to Congresses
Papers
Marabelli M*, Gismondi V*, Vetro A, Abou Khouzam R, Ricci MT, Zuffardi O, Varesco L, Ranzani GN. A novel APC promoter-1B deletion shows a founder effect in Italian patients with familial adenomatous polyposis. In preparation
*equal contribution
Feroce I, Serrano D, Biffi R, Andreoni B, Galimberti V, Sonzogni A, Bottiglieri L, Botteri E, Trovato C, Marabelli M, Ranzani GN, Bonanni B. Hereditary Diffuse Gastric Cancer (HDGC) in two uncommon families. Accepted for publication in Oncology Letters
Abou Khouzam R, Molinari C, Salvi S, Marabelli M, Molinaro V, Orioli D, Saragoni L, Morgagni P, Calistri D, Ranzani GN. Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer. Oncotarget. 2016 [Epub ahead of print]
Marabelli M, Molinaro V, Abou Khouzam R, Berrino E, Panero M, Balsamo A, Venesio T, Ranzani GN. Colorectal adenomatous polyposis: heterogeneity of susceptibility gene mutations and phenotypes in a cohort of Italian patients. Genet Test Mol Biomarkers. 2016; 20: 777-785.
Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol. 2016; 40: 425-431.
Quadri M, Vetro A, Gismondi V, Marabelli M, Bertario L, Sala P, Varesco L, Zuffardi O, Ranzani GN. APC rearrangements in Familial Adenomatous Polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. Fam Cancer. 2015; 14: 41-49.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Genes Chromosomes Cancer. 2014; 53: 432-445
Abstracts
Abou Khouzam R, Molinaro V, Pensotti V, Marabelli M, Molinari C, Bonanni B, Calistri D, Ranzani GN. CDH1 transcripts’ analysis in gastric cancer. AIFEG Congress. Napoli-Italy, 12-13 November 2015.
Marabelli M, Molinaro V, Abou Khouzam R, Balsamo A, Venesio T, Ranzani GN. Germline defects predisposing to colorectal adenomas and carcinomas. AGI/SIMA Congress. Cortona, Arezzo-Italy, 28-30 September 2015.
Abou Khouzam R, Grugni V, Raveane A, Marabelli M, Molinaro M, Polizzi S, Morini G, Semino O, Ranzani GN. Bitter taste receptor polymorphisms and colorectal cancer risk. AIFEG Congress. Gazzada Schianno, Varese-Italy, 16-17 October 2014.
Marabelli M, Molinaro V, Balsamo A, Venesio T, Ranzani GN. Inherited predisposition to colorectal adenomas and carcinomas: screening for mutations in the proofreading domain of POLε and POLδ polymerases. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Heterogeneous molecular mechanisms underlie Hereditary Diffuse Gastric Cancer syndrome. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Pozzi S, Bonanni B, Barile M, Serrano D, Feroce I, Bernard L, Ranzani GN, Molinaro V, Marabelli M, Pensotti V, Sonzogni A, Andreoni B, Biffi R. Mutazione del gene CDH1: due casi clinici. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Heterogeneous molecular mechanisms underlie Hereditary Diffuse Gastric Cancer syndrome. AGI Congress. Cortona, Arezzo-Italy, 25-27 September 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Fini L, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Hereditary Diffuse Gastric Cancer (HDGC) syndrome: a systematic study to identify CDH1 germline defects in Italian patients. AIFEG Congress. Padova-Italy, 8-9 October 2012.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Fini L, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with Hereditary Diffuse Gastric Cancer (HDGC) syndrome. SIGU Congress. Sorrento, Napoli-Italy, 21-24 November 2012.
Personal Data
Name: Monica Marabelli
Address: via Lanzani 11, 27100 Pavia
Date and Place of Birth: 11/05/1988, Pavia
Mobile: 3488562516
E-mail: monica.marabelli01@universitadipavia.it
Nationality: Italian
Education and Qualifications
2012-2015
PhD Student in Genetics, Molecular and Cellular Biology, University of Pavia
Experimental thesis: “Hereditary tumors: a molecular and statistical approach for the analysis of susceptibility genes”
Lab. Human Genetics - Cancer Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
2012
Biology license, following the professional state exam-University of Pavia
2010-2012
Master’s Degree in Experimental and Applied Biology, University of Pavia
Experimental thesis: “CDH1 gene variants in hereditary gastric cancer (HDGC): molecular and bioinformatic analysis”
Lab. Human Genetics - Cancer Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
Degree Session: June 2012
Grade: 110/110 cum laude
2007-2010
Bachelor’s Degree in Biological Sciences, University of Pavia
Experimental thesis: “Y1 and Y2 haplogroups in Italian cattle”
Lab. Animal Genetics, Dept. Biology and Biotechnology, University of Pavia
Supervisor: Prof. L. Ferretti
Degree Session: July 2010
Grade: 110/110 cum laude
2002-2007
High School Diploma, “Liceo classico-Ugo Foscolo”, Pavia
Grade: 100/100 cum laude
Research and professional experience
November 2012-October 2015: PhD Fellow in the Laboratory of Human Genetics-Cancer Genetics, Department of Biology and Biotechnology, University of Pavia
Supervisor: Prof. G. N. Ranzani
Main research activity: molecular analysis of constitutive defects in genes predisposing to the development of colorectal and gastric cancers.
January-May 2015: Visiting PhD student at the Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Supervisor: Prof. G. Parmigiani.
Main research activity: development of a statistical model allowing integration of different types of cancer risks and estimation of breast cancer penetrance associated with germline ATM gene mutations.
2014: Member of the examination board for undergraduate students in “Human Molecular Genetics”
2013-2014: Co-supervisor of the Master’s Degree thesis: “POLE and POLD1 genes in colorectal cancer predisposition”
May 2013, 2014 and June 2015: Laboratory lecturer of “Bioinformatics for Human Molecular Genetics” during the Master Program in “Medical and Genomic Statistics”
2011-2014: Tutor of “Genetics” for students pursuing a Bachelor’s Degree in Biotechnology
2010-2011: Tutor of “Human Anatomy” for students pursuing a Bachelor’s Degree in Biological Sciences
Languages
Italian: mother tongue; English (reading, writing and speaking): upper intermediate.
Laboratory techniques
- DNA and RNA extraction from biological samples;
- Purification, quantification and quality assessment of nucleic acids;
- PCR;
- Reverse-Transcription PCR;
- RealTime RT-PCR;
- DNA analysis by restriction enzymes;
- Gel electrophoresis;
- SNuPE (Single-Nucleotide Primer Extension);
- MLPA (Multiplex Ligation-dependent Probe Amplification);
- DNA Sequencing;
- DNA Sequence analysis.
Informatic and bioinformatic skills
Excellent knowledge of Microsoft Office tools: Word, Excel and Power Point.
Good knowledge of LaTeX software.
Bioinformatics programs and resources: NCBI (Entrez, Pubmed, OMIM, ClinVar, Nucleotide, dbSNP, Gene, Protein); Ensembl, BLAST, ClustalW2, ORF finder, Mutation Taster, Polyphen2, SIFT, NETGENE2, NNSplice, SROOGLE.
Intermediate knowledge of statistical software: e.g. "R".
Research project
Hereditary tumors: a molecular and statistical approach for the analysis of susceptibility genes
My main research activity is aimed at identifying the genetic predisposition to colorectal and gastric cancers. More specifically, I search for constitutive defects of CDH1 gene in patients with Hereditary Diffuse Gastric Cancer, as well as of POLE and POLD1 genes in patients with familial multiple adenomatous polyposis and/or colorectal cancer.
In addition, I developed a statistical model allowing the meta-analytic integration of different measures of cancer risks (i.e. penetrance, RR, SIR and OR) and I applied this model to estimate the penetrance of heterozygous ATM gene mutations in breast cancer.
Publications and Communications to Congresses
Papers
Marabelli M*, Gismondi V*, Vetro A, Abou Khouzam R, Ricci MT, Zuffardi O, Varesco L, Ranzani GN. A novel APC promoter-1B deletion shows a founder effect in Italian patients with familial adenomatous polyposis. In preparation
*equal contribution
Feroce I, Serrano D, Biffi R, Andreoni B, Galimberti V, Sonzogni A, Bottiglieri L, Botteri E, Trovato C, Marabelli M, Ranzani GN, Bonanni B. Hereditary Diffuse Gastric Cancer (HDGC) in two uncommon families. Accepted for publication in Oncology Letters
Abou Khouzam R, Molinari C, Salvi S, Marabelli M, Molinaro V, Orioli D, Saragoni L, Morgagni P, Calistri D, Ranzani GN. Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer. Oncotarget. 2016 [Epub ahead of print]
Marabelli M, Molinaro V, Abou Khouzam R, Berrino E, Panero M, Balsamo A, Venesio T, Ranzani GN. Colorectal adenomatous polyposis: heterogeneity of susceptibility gene mutations and phenotypes in a cohort of Italian patients. Genet Test Mol Biomarkers. 2016; 20: 777-785.
Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol. 2016; 40: 425-431.
Quadri M, Vetro A, Gismondi V, Marabelli M, Bertario L, Sala P, Varesco L, Zuffardi O, Ranzani GN. APC rearrangements in Familial Adenomatous Polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. Fam Cancer. 2015; 14: 41-49.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Genes Chromosomes Cancer. 2014; 53: 432-445
Abstracts
Abou Khouzam R, Molinaro V, Pensotti V, Marabelli M, Molinari C, Bonanni B, Calistri D, Ranzani GN. CDH1 transcripts’ analysis in gastric cancer. AIFEG Congress. Napoli-Italy, 12-13 November 2015.
Marabelli M, Molinaro V, Abou Khouzam R, Balsamo A, Venesio T, Ranzani GN. Germline defects predisposing to colorectal adenomas and carcinomas. AGI/SIMA Congress. Cortona, Arezzo-Italy, 28-30 September 2015.
Abou Khouzam R, Grugni V, Raveane A, Marabelli M, Molinaro M, Polizzi S, Morini G, Semino O, Ranzani GN. Bitter taste receptor polymorphisms and colorectal cancer risk. AIFEG Congress. Gazzada Schianno, Varese-Italy, 16-17 October 2014.
Marabelli M, Molinaro V, Balsamo A, Venesio T, Ranzani GN. Inherited predisposition to colorectal adenomas and carcinomas: screening for mutations in the proofreading domain of POLε and POLδ polymerases. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Heterogeneous molecular mechanisms underlie Hereditary Diffuse Gastric Cancer syndrome. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Pozzi S, Bonanni B, Barile M, Serrano D, Feroce I, Bernard L, Ranzani GN, Molinaro V, Marabelli M, Pensotti V, Sonzogni A, Andreoni B, Biffi R. Mutazione del gene CDH1: due casi clinici. AIFEG Congress. Pavia-Italy, 24-25 October 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Heterogeneous molecular mechanisms underlie Hereditary Diffuse Gastric Cancer syndrome. AGI Congress. Cortona, Arezzo-Italy, 25-27 September 2013.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Fini L, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Hereditary Diffuse Gastric Cancer (HDGC) syndrome: a systematic study to identify CDH1 germline defects in Italian patients. AIFEG Congress. Padova-Italy, 8-9 October 2012.
Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Fini L, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN. Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with Hereditary Diffuse Gastric Cancer (HDGC) syndrome. SIGU Congress. Sorrento, Napoli-Italy, 21-24 November 2012.
