| http://purl.uniprot.org/citations/29950560 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29950560 | http://www.w3.org/2000/01/rdf-schema#comment | "Adult-type granulosa cell tumors of the ovary (aGCTs) are rare gynecologic malignancies that exhibit a high frequency of somatic FOXL2 c.C402G (p.Cys134Trp) mutation. Treatment of relapsed aGCT remains a significant clinical challenge. 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. Mono-allelic KMT2D-truncating mutations are more frequent in recurrent (10/44, 23%) compared with primary (1/35, 3%) aGCTs (pā=ā0.02, two-sided Fisher's exact test). IHC detects additional non-KMT2D-mutated aGCTs with loss of nuclear KMT2D expression, suggesting that non-genetic KMT2D inactivation may occur in this tumor type. These findings identify KMT2D inactivation as a novel driver event in aGCTs and suggest that mutation of this gene may increase the risk of disease recurrence."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-018-04950-x"xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Futreal P.A."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Hillman R.T."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Nguyen T."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Thornton R."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Rai K."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Little L."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Gumbs C."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Lu K.H."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Broaddus R.R."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Celestino J."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Gershenson D.M."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Terranova C."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Beird H.C."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/author | "Tippen S."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/pages | "2496"xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/title | "KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary."xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/29950560 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29950560 |
| http://purl.uniprot.org/citations/29950560 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29950560 |