@dpavot:29950560
Annnotations
PGR-UNK
{"project":"PGR-UNK","denotations":[{"id":"T1","span":{"begin":177,"end":182},"obj":"8085"},{"id":"T2","span":{"begin":272,"end":277},"obj":"8085"},{"id":"T3","span":{"begin":36,"end":42},"obj":"HP:0002664"},{"id":"T4","span":{"begin":396,"end":401},"obj":"HP:0002664"}],"relations":[{"id":"R1","pred":"unknown","subj":"T3","obj":"T1"},{"id":"R2","pred":"unknown","subj":"T4","obj":"T2"}],"text":"Here we show, using whole-exome and cancer gene panel sequencing of 79 aGCTs from two independent cohorts, that truncating mutation of the histone lysine methyltransferase gene KMT2D (also known as MLL2) is a recurrent somatic event in aGCT.\r\n\r\nIHC detects additional non-KMT2D-mutated aGCTs with loss of nuclear KMT2D expression, suggesting that non-genetic KMT2D inactivation may occur in this tumor type."}