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Would you share with us what we know about the genetics of uveal melanoma and how it is influencing treatment?
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ScottWoodmanMDPhD (Physician - Oncology - Hematology/Oncology (Verified) ) - 08 / 19 / 2012
Approximately 85% of uveal melanoma tumors have somatic mutations (mutations in genes that are not inherited, but which occur sporadically) in the GNAQ or GNA11 genes. Mutations in the GNAQ or GNA11 genes are mutually exclusive, i.e., if a GNAQ mutation is present in a uveal melanoma tumor, then a GNA11 mutation is not present, and vice versa. Mutations in the GNAQ or GNA11 genes make the proteins they encode constantly overactive which drives the growth and survival of the uveal melanoma tumor cells. There is currently no drug that can directly inhibit the function of mutant GNAQ or GNA11, but there are clinical trials testing drugs in the attempt to block the “downstream” effects of mutant GNAQ or GNA11.
See this answer for the genetics concerning BAP1 -http://talkabouthealth.com/what-is-bap1-and-what-does-it-have-to-do-with-uveal-melanoma.
There are ongoing efforts to identify other genes apart from GNAQ/GNA11 or BAP1 that are mutated in uveal melanoma. Early results suggest that other gene mutations appear to be at much lower frequency and their functional significance will require further investigation.
Importantly, uveal melanomas, unlike other melanoma types, do not harbor a high frequency of mutations in the BRAF, NRAS or KIT genes. Thus, clinically available drug inhibitors for these genes (e.g., vemurafenib for BRAF or imatinib for KIT) are unlikely to play a role in uveal melanoma treatment.
See this answer for the genetics concerning BAP1 -http://talkabouthealth.com/what-is-bap1-and-what-does-it-have-to-do-with-uveal-melanoma.
There are ongoing efforts to identify other genes apart from GNAQ/GNA11 or BAP1 that are mutated in uveal melanoma. Early results suggest that other gene mutations appear to be at much lower frequency and their functional significance will require further investigation.
Importantly, uveal melanomas, unlike other melanoma types, do not harbor a high frequency of mutations in the BRAF, NRAS or KIT genes. Thus, clinically available drug inhibitors for these genes (e.g., vemurafenib for BRAF or imatinib for KIT) are unlikely to play a role in uveal melanoma treatment.
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