Genetic testing for cancer is important for a small number of families at increased risk due to the inheritance of genetic mutations. Most commonly this involves the inheritance of breast cancer genes such as the BRCA 1 and 2 or colorectal cancer genes such as the Lynch syndrome genes. Although these only represent a small percentage of total cancers reported there is significant public interest in these syndromes.

In the context of family cancer screening, genetic testing looks for specific inherited changes or variants in a person’s genes which may predispose them to an increased risk of developing a neoplasm. Harmful variants in some genes are known to be associated with an increased risk of developing specific cancers such as mutations to the BRCA 1 and 2 genes associated with breast and ovarian cancer and the Lynch genes associated with colorectal and endometrial cancer.