CHEK2 Mutation
I was at my gastroenterologist last week. He passed on the following news adding that this is the first time (praticing over 30 years) that he has ever seen a risk being removed from guidelines.
In August of this year, the National Comprehensive Cancer Network (NCCN) guidelines removed the warning that a CHEK2 mutation increases the risk of colorectal cancer. The new guidelines recommend that if you have a CHEK2 mutation you should first consider your family history and other factors. The guidelines now recommend you follow the general population screening guidelines.
They further indicated … some studies have suggested that some CHEK2 variants may be associated with an increased risk of thyroid, pancreatic, kidney, and stomach cancers. However, such evidence is limited and more research is needed to make a determination regarding these associations before any recommendations for screening for these cancers can be recommended. There is insufficient evidence to suggest that CHEK2 pathogenic variants are associated with an increased risk for ovarian cancer at this time.
Comments
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@going2beatthis Thanks for this. My understanding is that there are different versions of CHEK2, so I wonder if it applies to all. I know I have a version that is not considered particularly dangerous. I had genetic counseling and was told that the research on this version of the mutation is ongoing and not much was known then (a year ago).
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this is very interesting! I have chek2. With history of breast cancer. My sister had chek2 and passed from ovarian.
I do believe our variant is the cause of our cancer. I can’t remember our exact variant. I know that it’s not the most common one.
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I just found out I have the chek2 mutation, del1100 or whatever it's called. I'm wondering if other women went through treatment before having genetic testing and discovering a chek2 mutation. I don't think it would have changed my treatment plan if I had known before my active treatment, but it might have. I worry about a recurrence, especially in the other breast. Mine was found early and seemed like the well behaving kind (stage 1 ER+) so I was feeling like I could put the whole thing behind me, but I know feel a bit overwhelmed by this news. Wondering what others have experienced.
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