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Explain 23andme and possible benefits (and risks)
Codon 816 c-kit mutation (also known as D816V) can be tested for in the bone marrow or any organ involved with large numbers of abnormal mast cells. It is present in about 85% of patients. As there are usually very few mast cells in the blood, in most cases bone marrow samples are needed to give useful results.
This c-kit mutation leads to increased levels of a protein receptor on mast cells called KIT (a tyrosine kinase) which is involved in controlling mast cell growth and causes increased numbers of mast cells in the bone marrow and elsewhere.
Testing for this D816V c-kit mutation is important as new drugs (called tyrosine kinase inhibitors) are being specifically developed to target its function and slow or even stop the production of mast cells. Also, some drugs (for example, one called Glivec) may not be effective in patients who are shown to have this mutation.