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What is monosomy 3 and what does it have to do with uveal melanoma?
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ScottWoodmanMDPhD (Physician - Oncology - Hematology/Oncology (Verified) ) - 08 / 19 / 2012
See the following answer -http://talkabouthealth.com/what-is-bap1-and-what-does-it-have-to-do-with-uveal-melanoma.
Normal cells have two copies of chromosome 3 (one from each parent). It has been known for quite some time that loss of one chromosome 3 (referred or as monosomy 3, because only one chromosome 3 remains) in a patient’s primary uveal melanoma tumor cells is highly predictive for the future development of metastatic uveal melanoma. Primary uveal melanoma tumors with cancer cells that are disomy (have both copies of chromosome 3) are highly associated with not developing metastatic uveal melanoma. A molecular reason for this disparity was unclear until the recent identification of mutations in BAP1 on the remaining chromosome 3 in the vast majority of uveal melanomas with monosomy 3, rendering the cells without functional BAP1.
Normal cells have two copies of chromosome 3 (one from each parent). It has been known for quite some time that loss of one chromosome 3 (referred or as monosomy 3, because only one chromosome 3 remains) in a patient’s primary uveal melanoma tumor cells is highly predictive for the future development of metastatic uveal melanoma. Primary uveal melanoma tumors with cancer cells that are disomy (have both copies of chromosome 3) are highly associated with not developing metastatic uveal melanoma. A molecular reason for this disparity was unclear until the recent identification of mutations in BAP1 on the remaining chromosome 3 in the vast majority of uveal melanomas with monosomy 3, rendering the cells without functional BAP1.
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