NCUK Virtual Patient Handbook

Genetics

Genetics is the study of genes and the role they play in inheritance. B colour) or conditions (such as cancer) might be passed down from on Genetic testing often focuses on looking for a particular gene / gene • to identify whether that gene (or alteration of it) could or has led to • to predict the likelihood of that specific condition occurring in other Genetic testing may also be used to help identify an alteration in that Example 1: A DPD deficiency could make the side effects of certain life-threatening. Therefore testing for a mutation in the DYPD gene ca used in treating some neuroendocrine cancers. Further information on DPD can be found on the Cancer Research U Example 2: NTRK fusion testing - to allow access to treatments tha Larotrectinib. The NTRK gene family has 3 members NTRK1, NTRK2 and NT and function. Alterations in the NTRK genes can result in two genes fusing tog which can lead to uncontrolled growth of cancer cells. NTRK fus cancers) but have been identified in a broad range of solid tumo gynaecological, neuroendocrine (less than 0.5% NECs), non- sm cancers.

NICE Technology Appraisal guidance TA644: Entrectinib for treating NTRK fusion-positive solid tumours (published o NICE Technology Appraisal guidance TA630: Larotrectinib for treating NTRK fusion-positive solid tumours (published

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