How is a diagnosis made?

To find out whether the criteria for suspicion of hereditary cancer is met, it is necessary to attend a genetic counselling appointment. A thorough review of personal and family history is carried out at this appointment in order to establish the likelihood of hereditary cancer.  

People with suspected hereditary cancer usually have a blood sample taken. DNA is obtained from the blood cells and is then compared with the genes to be studied. This test aims to detect the presence of a mutation that causes the hereditary predisposition to cancer. Identifying the causative mutation means it is possible to study family members to detect who has inherited the mutation and, therefore, who has a greater risk of developing cancer.