When a πΎπΏπ1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a πΎπΏπ1 mutation are not well understood.Identifying a πΎπΏπ1 mutation in families with hereditary diffuse gastric cancer (HDGC) or a strong history of stomach cancer is tremendously useful. However, it is not yet known whether this information is useful when an unexpected πΎπΏπ1 mutation is identified, and there is no personal or family history of stomach cancer or lobular breast cancer.
Given these shortcomings, it is important for this testing to be done by a provider knowledgeable about the value and limitations of this gene, in the context of providing pre-test genetic counseling education.
Check out the original commentary at: https://academic.oup.com/…/doi/10.1093/jnci/djz229/5678792