Gaia Roversi


After a degree in medicine and surgery in 2000 and a postgraduate diploma in Medical Genetics in 2004, she received a Temporary Research Fellow in SSD MED/03 from 2004 to 2008 at the University of Milan. From 2009 to 2011 she worked as genetic counselor for cancer predisposition syndrome at Fondazione IRCSS Istituto Nazionale dei Tumori of Milan. From 2011 she is Assistant Professor – researcher for s.s.d MED/03 at University of Milan Bicocca.


  • Genetic alterations in sporadic papillary thyroid cancers
  • Search for genetic predisposition to familial non medullary thyroid carcinoma (FNMTC)
  • Studies of patients affected by multiple primitive tumors and search for cancer susceptibility genes
  • Valuation of spontaneous and induced constitutive genomic instability in patients with cancer predisposition syndrome
  • Genetic alterations in glioma -brain tumors


In this project we intend to investigate the hereditable genetic factors responsible for familial predisposition to familial non medullary thyroid carcinoma (FNMTC) by studying a family of four generations, which include four patients affected by papillary thyroid carcinoma (PTC), two of which homozygous twins, and two sisters who developed benign thyroid nodules.
We will investigate this family by using different methodologies that will allow us to compare the human genomic profile of the family members with the corresponding tumoral genomic profiles of the thyroid lesions. With this aim we plan the following experiments:

  1. characterization by array CGH of five thyroid lesions belonging the family
  2. characterization by array CGH of the human genome of at least two family members
  3. exome sequencing of the human genome of eight family members
  4. eventual linkage analysis of the family

We are confident that this combined strategy has a great potential for localizing the gene of interest in this family. Whenever an hereditary genetic alteration will be detected, the candidate gene will be screened by Sanger sequencing in other familial cases and in PTC sporadic specimens.


  1. Mainini V, Pagni F, Garancini M, Giardini V, De Sio G, Cusi C, Arosio C, Roversi G, Chinello C, Caria P, Vanni R, Magni F. An Alternative Approach in Endocrine Pathology Research: MALDI-IMS in Papillary Thyroid Carcinoma. Endocr Pathol. 2013 Oct 19.
  2. Larizza L, Roversi G, Verloes A.: Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet. 2013 Jul;21(7).
  3. Volpi L*, Roversi G*, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. (*These authors contributed equally to this work) Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2010 Jan;86(1):72-6. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445
  4. Roversi G, Pfundt R, Moroni RF, Magnani I, van Reijmersdal S, Pollo B, Straatman H, Larizza L, Schoenmakers EF. Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines. Oncogene. 2006 Mar9;25(10):1571-83.