Chapter 20: Diagnostic investigations
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Definition
Genetic testing assesses the risk of cancer for a specific group of patients and their family. Cancer risk management advice is given to individuals and families who are known to have, or are suspected to have, an increased risk of cancer compared with the general population, due to heritable (germline) mutations in their DNA. Genetic testing is currently available for faults in genes that cause an increased risk of breast, bowel, ovarian, uterine and prostate cancer. Genetic tests are also available for rare faults in genes that may increase the risk of kidney, skin (melanoma), pancreatic and thyroid cancer and retinoblastoma. Initially a blood test is taken followed by assessment, history taking and counselling (Cancer Research UK 2016, Kirk [80], Kumar and Clark [86]).