{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["McGuigan A"],"funding":["Cancer Research UK","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["265-270"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8904543"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(3)"],"pubmed_abstract":["Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes(CSGs). With increased use of exome/genome sequencing it would be predicted that detection of MINAS would become more frequent. Here we review recent progress in knowledge of MINAS. A systematic literature search for reports of individuals with germline pathogenic variants in 2 or more of 94 CSGs was performed. In addition, participants with multiple primary tumours who underwent genome sequencing as part of the Rare Disease arm of the UK 100,000 Genomes Project were interrogated to detect additional cases. We identified 385 MINAS cases (211 reported in the last 5 years, 6 from 100,000 genomes participants). Most (287/385) cases contained"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update."],"pmcid":["PMC8904543"],"funding_grant_id":["S_4087","CL-2019-14-002","Cambridge BRC","BRC-1215-20014"],"pubmed_authors":["Savage K","Taylor Tavares AL","Bevers R","Tischkowitz M","Fowler T","Chan GC","Williams E","Pullinger J","Lopez FJ","Maleady-Crowe F","Genomics England Research Consortium","Lahnstein L","Hubbard TJP","Welland MJ","Minneci F","Stuckey A","Sieghart A","Caulfield MJ","McGuigan A","Hamblin A","Mueller M","O'Donovan P","Ambrose JC","Scott RH","Tucci A","Moutsianas L","Bleda M","Leigh SEA","Patch C","Thomas ERA","Brittain H","Jones LJ","Arumugam P","Whitworth J","Kasperaviciute D","Henderson S","Pereira MB","Rogers T","Boardman-Pretty F","McEntagart M","Kayikci M","Thompson SR","Murugaesu N","Leong IUS","Kousathanas A","Witkowska K","Tanguy M","Smith SC","Jackson R","Giess A","Rendon A","Sosinsky A","Andreou A","Perez-Gil D","Need AC","Sawant K","Hearn T","Boustred CR","Siddiq A","Odhams CA","Maher ER","Rahim T","Wood SM"],"additional_accession":[]},"is_claimable":false,"name":"Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.","description":"Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes(CSGs). With increased use of exome/genome sequencing it would be predicted that detection of MINAS would become more frequent. Here we review recent progress in knowledge of MINAS. A systematic literature search for reports of individuals with germline pathogenic variants in 2 or more of 94 CSGs was performed. In addition, participants with multiple primary tumours who underwent genome sequencing as part of the Rare Disease arm of the UK 100,000 Genomes Project were interrogated to detect additional cases. We identified 385 MINAS cases (211 reported in the last 5 years, 6 from 100,000 genomes participants). Most (287/385) cases contained","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-19T09:24:36.602Z","creation":"2025-04-19T09:24:36.602Z"},"accession":"S-EPMC8904543","cross_references":{"pubmed":["34983940"],"doi":["10.1038/s41431-021-01013-6"]}}