Predictive genetics : the Maltese familial breast/ovarian cancer genetic screening programme

Abstract

Predictive genetic testing is used to assess the future risk of an inherited disease in individuals with a family history of the disease. BRCA1 and BRCA2 autosomal dominant mutations account for 5-10% of breast cancers and for around 15% of ovarian cancers. There are also families with hereditary tumours that are wild-type for both genes.Genetic testing was offered at the Genetics Clinic, Mater Dei Hospital, according to the National Institute for Health and Care Excellence guidelines. BRCA1 and BRCA2 gene sequencing (n=127) was outsourced. Family members of individuals having BRCA1 or BRCA2 mutations were then tested locally (Laboratory of Molecular Genetics) for the presence of the mutation found in the proband and provided with the required counselling. BRCA1/2 wild-type individuals were recruited in the ImaGenX project, together with a Sicilian hereditary breast cancer cohort, for next-generation DNA sequencing (NGS) to find other causative mutations.