IFOM Genome Diagnostics program

Genome Diagnostics

Background and current state-of-the-art

The advent of massive parallel DNA sequencing has revolutionized the biomedical research field ensuring rapid and affordable deciphering of the human genome sequence. This has led to a dramatic acceleration in the identification of genetic alterations responsible for several congenital and acquired diseases. In particular, taking advantage of next generation sequencing (NGS) technology, both national and international large-scale genome sequencing projects have made substantial progress in the reconstruction of the spectrum of recurrent genetic alterations present in sporadic and inherited forms of cancer.

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Stefano Casola

Stefano Casola

Stefano Casola is head of the Genome Diagnostic Program. He is also Principal Investigator of the Genetics of B Cells and Lymphomas program.
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Paolo Peterlongo

Paolo Peterlongo

Paolo Peterlongo is a member of the Genome Diagnostics Program and leads a research line, which focuses on the genetic predisposition to breast cancer.

Recent publications

  • The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
    Catucci I, Radice P, Milne RL, Couch FJ, Southey MC, Peterlongo P.
    Breast Cancer Res. 2016;18(1):111. IF=5.21
  • Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
    Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, *Peterlongo P, *Neuhausen SL. *Equally contributing.
    Breast Cancer Res Treat. 2016;160(1):121-129. IF=4.085
  • Personalized testing based on polygenic risk score is promising for more efficient population-based screening programs for common oncological diseases.
    Radice P, Pharoah PD, Peterlongo P.
    Ann Oncol. 2016;27(3):369–370 IF=7.04


Fig.1 The picture represents a family. Circles indicate female; squares, males; union horizontal lines, the two parents; vertical lines, their children. The highlighted woman (the proband) developed breast cancer at age 28. As her paternal ant and grandmother were also affected with the disease, the proband underwent genetic counseling to consider testing for mutations in breast cancer predisposition genes. The sequencing of BRCA1, BRCA2 e PALB2 genes on DNA prepared from blood showed the pathogenic mutation PALB2 p.Gln343*. This finding will allow a quick and inexpensive test to know if other family members have inherited the mutation and are at risk of developing breast cancer.

IFOM Review

FANCM – a new cancer susceptibility gene?
Commentary on Paolo Peterlongo's paper published in Human Molecular Genetics., by William D Foulkes (2016)
complete review