Anyone With PDAC and the HNF1A Mutation?

Posted by patti303 @patti303, Feb 28, 2023

While 90% of PDACs have KRAS mutations, there is an HNF1A mutation related to late onset (or adult) Type 2 diabetes that may also be present in the tumor for a small number of patients. From what I've learned reading various papers, the HNF1A seems to be a factor in KRAS, but also has an effect on (or is affected by) some of the chemo protocols in wide use today (oxilaplatin, for one). HNF1A may also cause liver issues. So, I'm searching for others with this mutation combo. I'm curious about how your treatment protocols were adjusted and what your doctors have told you about this mutation and PDAC chemo protocols, if anything.

Interested in more discussions like this? Go to the Pancreatic Cancer Support Group.

gardenlady1116 | @gardenlady1116 | Mar 1, 2023

Thanks for sharing your story. I have BRCA1 and had to look a bit for someone doing research specifically with this mutation and have a second opinion going on with Dr. David Kelsen at MSKCC . I read through the oncologists description of their work ("About me") and was delighted to find someone who was actively working on this mutation. I am hoping that my local oncologist will follow the recommendations as it would be difficult to travel to get chemo outside the community. So far so good, the chemo recommendations are in agreement. My local oncologist is a great doctor but was not familiar with pancreatic cancer and BRCA1.

patti303 | @patti303 | Mar 1, 2023

Thank you for the reply. I'm glad you found someone researching your mutation and that encourages me to keep looking. How did you find a doctor involved specifically with your mutation?

Along the lines of BRCA1, the HNF1A mutation seems to be a predictor for Pancreatic cancer (PDAC). When I was finally able to locate my birth family on my maternal side, I learned that my mother had died of cancer --and just about everyone else was diabetic, but they refused to tell me what cancer my mother had. From what I've read, the HNF1A is a known predictor of adult diabetes, but also PDAC. The PDAC connection seems to be a newer discovery. One recent paper ties it to the KRAS mutation, 90% of PDACs. More importantly, it has an affect on the two main chemo drugs given to PDAC patients. Since PDAC is only 3.3% of all cancers and only a very small percentage of this population carries the HNF1A, tying to find others PDAC carriers or a cancer center interested in this may be impossible, but thought I would give it a try. HNF1A mutations can also be found with KRAS in some liver and colorectal cancers.

gardenlady1116 | @gardenlady1116 | Mar 2, 2023

I live the NYC area, there are five National Cancer Center recognized pancreatic centers in NYC. Sloan has the best reputation and I went for consultation after having the BRCA1 diagnosed. I just went through what was posted on line about the oncologists until I found what I was looking for.

These are some scholarly articles. One or more of the authors of the papers might be an oncologist with active clinical practice that you could see. It does take some research, but hopefully you will be able to find someone who can help
https://pubmed.ncbi.nlm.nih.gov/30074477/
https://elifesciences.org/articles/33947.pdf
https://academic.oup.com/carcin/article/35/12/2670/334730

patti303 | @patti303 | Mar 2, 2023

In reply to @gardenlady1116 "I live the NYC area, there are five National Cancer Center recognized pancreatic centers in NYC...." + (show)

Thank you for the links. There was one paper I haven't seen before that was very helpful. I think I'll try contacting some of the researchers to see if they are aware of which centers are looking for or monitoring this combo. I've noticed that it is only recently a flurry of papers on HNF1A have been published. One paper mentioned that it was the increase in data and availability of wide-spread data was proving valuable. There haven't been any trials that I qualify for, so am trying to be proactive as odds are a new tumor will develop.