How to improve the identification of patients with cancer eligible for genetic counselling?

Abstract

In the last few decades, more than 50 cancer syndromes have been described. The most commonly studied hereditary mutations are in the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer syndrome (HBOC syndrome), and the mismatch repair genes (e.g. MLH1, MSH2, MSH6, PMS2, EPCAM), which are responsible for hereditary non-polyposis colorectal cancer syndrome (HNPCC syndrome or Lynch syndrome). Harmful mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer, fallopian tube and peritoneal cancer, breast and prostate cancer in men, and pancreatic cancer