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The PTCH1 gene is a tumor suppressor gene that contains the instructions for making the patched-1 protein. The gene encodes a member of the patched family of proteins and is a component of the hedgehog signaling pathway.
PTCH1 is altered in approximately 4 percent of colorectal cancer patients.
Some mutations are acquired during a person's lifetime and are present only in certain cells. These genetic changes, called somatic mutations, are not inherited.
Although there are no FDA approved therapies targeting PTCH1 mutations to date, there is a clinical trial investigating the efficacy of a potential treatment in cancer patients with PTCH1 Loss of Function mutations.
The treatment option is for patients with KRASG12C-mutated locally advanced or metastatic colorectal cancer (CRC) who have received prior treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy.
Statistics suggested that Christy’s odds of survival were grim, so she leaned into her faith and kept a positive outlook. She tried to control what she could. And, critically, she received biomarker testing.
Michelle Cappel owes a lot to colorectal cancer biomarker testing — seven years of life and counting.