Unknown mutations or less common?

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Unknown mutations or less common?

Postby Lovenothate » Wed Jun 15, 2022 9:03 pm

Hello everyone,

It’s been about 4 years since my mom passed away and I last logged on. It’s nice to see familiar names and it saddens me to see new ones.

Im back on since my 24 year old cousin was diagnosed with colon cancer. The process has been devastatingly slow to get her initial scan, bloodwork, genetic testing, etc. At this point my mom didn’t have lynch syndrome, neither did my grandpa. I guess I’m just wondering if anyone has read any research on uncommon genetic mutations that have come to light lately?
I’m the same age as my cousin and I’m concerned for my family. It’s exhausting to have to go through the journey again but I don’t want to lose anyone else again from this disease.

Thanks for being here everyone.
daughter to DM dx Stage IV CRC @47 July 2016
total hysterectomy b/c ovarian mets abscites 6/16
Folfox 7/16
Lung spots 2mm each 9/16
Xeloda & Avastin 1/17
Shrinkage to lungs spots! 4/17
Break from Avastin/ Xeloda continued 7/17
Omentum mets/ lungs mets stable(possibly not malignant)
Folfiri 8/17
1 lung spot all along-clear abdomen scans chemo break until 4/4/17

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Re: Unknown mutations or less common?

Postby Peregrine » Thu Jun 16, 2022 1:59 am

Comprehensive Hereditary Cancer Panel for CRC - 23 genes
https://blueprintgenetics.com/tests/pan ... ncer-panel

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