Finally got my answer…

From my 2024 archive:

After two and a half years of playing medical detective, I finally received the first definitive piece of evidence that I have been seeking to prove (or disprove) that I have Lynch syndrome. My dad was able to get all of his records from his former medical providers that included all of the data from a 2-year period during which he had multiple procedures, including two colon resections for recurrent cancer. And as should be the standard of care for all colon cancers, the tissue underwent immunohistochemical (IHC for short) testing to see if any of the 4 Lynch-associated genes had a problem. And sure enough, his test results showed what I have long suspected – we do have a MSH6 variant that is NOT of ‘uncertain significance’ – it is pathogenic for our family.

Though happy to finally have the answer I have been seeking, the more prominent feeling I have is disgust. Five years of my dad not being given this important piece of information which impacts not only his health, but mine, his siblings’ and my cousins’ health as well. He was not referred for genetic counseling or offered genetic testing, and no mention of Lynch syndrome can be found in the hundreds of pages of his medical records that he requested from these providers. And these providers are not at some small community hospital. They are at a large academic medical center that has a great reputation.

I think about all of the stress I have been under for close to 3 years now, wondering about this MSH6 variant of uncertain significance (VUS) that was identified when I elected to have genetic testing performed after my breast cancer diagnosis. How, despite having two generations before me with colon cancer, was not an eyebrow raised about this VUS.

‘Don’t worry’, they said, ‘it’s probably nothing, check back in a year to see if there is any new data available’.

~ my first genetic counselor

If I had known this information back when it was first discovered, I would have already had genetic testing by the time my breast cancer was diagnosed. There is some data (though not terribly strong) showing that of all of the Lynch genes, MSH6 variants seem to be more associated with breast cancer than others. My tumor is currently undergoing whole genome sequencing which will hopefully identify whether Lynch played any role in the breast cancer, or whether I’m just a lucky girl who got cancer for another reason {she says, sarcastically}.

I also would have been more on top of my colonoscopies, and not waited until I felt recovered from my breast cancer treatments to have my next one. And when I got COVID for the first time, delaying my scheduled colonoscopy, knowledge of the Lynch might have gotten me re-scheduled sooner than 6 months later. Thankfully I {only} had high grade dysplasia (which one of my doctors considers a colon cancer equivalent) by the time I finally had the colonoscopy. If it had been adenocarcinoma, and I later found out about the Lynch, I might have completely lost it.

And lastly, when I made the decision to have my ovaries removed about a year after being on Lupron shots every 28 days to keep me in menopause as part of the hormone suppression piece of my treatment, I certainly would have insisted on a hysterectomy at the same time to reduce my risk of endometrial cancer from the Lynch. Instead, I’ll now have to undergo yet another major surgery to reduce my risk of developing another cancer.

Despite my grumbling, I know I am lucky to have the medical knowledge to do my own research and question my healthcare team when things don’t make sense to me. And I’m glad that this knowledge now empowers my family to get genetic testing and act on the recommended screenings if also positive for the MSH6 variant.