{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Duchnowska R"],"funding":["The National Science Centre, Poland","Medical University of Gdańsk, Poland"],"pagination":["20537"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9708673"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_abstract":["Brain metastases (BMs) in ovarian cancer (OC) are a rare event. BMs occur most frequently in high-grade serous (HGS) OC. The molecular features of BMs in HGSOC are poorly understood. We performed a whole-exome sequencing analysis of ten matched pairs of formalin-fixed paraffin-embedded samples from primary HGSOC and corresponding BMs. Enrichment significance (p value; false discovery rate) was computed using the Reactome, the Kyoto Encyclopedia of Genes and Genomes pathway collections, and the Gene Ontology Biological Processes. Germline DNA damage repair variants were found in seven cases (70%) and involved the BRCA1, BRCA2, ATM, RAD50, ERCC4, RPA1, MLHI, and ATR genes. Somatic mutations of TP53 were found in nine cases (90%) and were the only stable mutations between the primary tumor an"],"journal":["Scientific reports"],"pubmed_title":["Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases."],"pmcid":["PMC9708673"],"funding_grant_id":["Statutory grant ST-23, 02-0023/07","Grant 2018/02/X/NZ5/01408."],"pubmed_authors":["Supernat AM","Ronen R","Mandat T","Olszewski WP","Och W","Duchnowska R","Lukasiewicz M","Dutkowski J","Kowalczyk A","Peksa R","Jarosz B","Rucinska M","Uminska M","Izycka-Swieszewska E","Biernat W","Jassem J","Stokowy T","Bienkowski M"],"additional_accession":[]},"is_claimable":false,"name":"Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.","description":"Brain metastases (BMs) in ovarian cancer (OC) are a rare event. BMs occur most frequently in high-grade serous (HGS) OC. The molecular features of BMs in HGSOC are poorly understood. We performed a whole-exome sequencing analysis of ten matched pairs of formalin-fixed paraffin-embedded samples from primary HGSOC and corresponding BMs. Enrichment significance (p value; false discovery rate) was computed using the Reactome, the Kyoto Encyclopedia of Genes and Genomes pathway collections, and the Gene Ontology Biological Processes. Germline DNA damage repair variants were found in seven cases (70%) and involved the BRCA1, BRCA2, ATM, RAD50, ERCC4, RPA1, MLHI, and ATR genes. Somatic mutations of TP53 were found in nine cases (90%) and were the only stable mutations between the primary tumor an","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-19T13:25:15.679Z","creation":"2025-04-19T13:25:15.679Z"},"accession":"S-EPMC9708673","cross_references":{"pubmed":["36446793"],"doi":["10.1038/s41598-022-23788-4"]}}