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