Hello, a family member has the JAK2 V617F somatic mutation.
Here is an article on how your DNA can give you an increased chance for a somatic mutation. I have a PDF of the full article;
Notes from the article;
- A five to seven fold increase of MPN development was identified in first-degree relatives of patients with MPN.
- A germline haplogroup, GGCC or 46/1, in a section of the JAK2 gene is associated with a three to four fold increase risk of developing a V617F MPN.
And a video;
Individual SNPs associated with the JAK2 V617F mutation, these may be called V617F carriers.
rs59384377 = JAK2 46/1 haplotype
rs7705526 = TERT gene
rs7310615 = SH2B3
rs1548483 = upstream of TET2