I have recently had genetic testing to rule out BRCA gene, but came up with a PTEN mutation (p.Y336... c.1008C>G)- tumor suppressant gene . I have a medical history of a tiny breast cancer about 12 years ago (a few millimeters), colon polyps, and macrocephaly. Other than that I am perfectly healthy. My physicians have told me I have Cowden syndrome, and it is now a 4 alarm fire with need for multiple tests per year, but all the studies I read on this indicate incidence is about 1/200,000. Not sure about the actual pathogenicity of this, as they are just reporting case studies and acknowledging there could be bias in diagnosis. Anyone out there able to help me sort out the actual science of this? Is the medical community getting out over their skis here?
genetics.pdf
