JAK2 V617F somatic mutation

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;

New Genetic Findings for Rare Blood Cancers

 

 

Notes from the article;

  1.  A five to seven fold increase of MPN development was identified in first-degree relatives of patients with MPN.
  2. 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