{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8(12)"],"submitter":["Kim SY"],"pubmed_abstract":["<h4>Importance</h4>There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers.<h4>Objective</h4>To quantify the prevalence of as well as cancer risk and survival associated with CHEK2 germline pathogenic and likely pathogenic variants using genomic ascertainment.<h4>Design, setting, and participants</h4>This case-control study used 2 electronic health record-linked and exome-sequenced biobanks: UK Biobank (n = 469 765) and Geisinger MyCode (adults only; n = 167 050). Variants were classified according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. Cases were defined as individuals with heterozygous CHEK2, harboring pa"],"journal":["JAMA network open"],"pagination":["e2549730"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12706675"],"repository":["biostudies-literature"],"pubmed_title":["Genomic Ascertainment of CHEK2-Related Cancer Predisposition."],"pmcid":["PMC12706675"],"pubmed_authors":["Siminovitch K","Nathanson KL","Siceron S","Gaynor S","Thornton T","Verweij N","Dornbos P","Marchini J","Otto J","O'Keeffe S","Paynter A","Haas M","Watanabe K","LeBlanc MG","Ferrando A","Baldassari A","Wollack C","Ayer A","Ritchie MD","Gilly A","Smelser D","Ghoussaini M","Stahl E","Nerz KP","Lin N","Landheer K","Santos S","Hindy G","Yu S","Eom G","Pairo Castineira E","Lachmann A","Reynoso R","Sirugo G","Ross J","Lotta LA","Ganel L","Rao HS","Jones MB","Lopez A","Maxwell EK","Ghosh A","Manoochehri K","Forsythe C","Revez J","Ye B","Bai X","Damask A","Rico-Varela J","Marcketta A","Panea R","Crane L","Kim SY","Paulding C","Rana N","Mansfield AJ","Mayerhofer E","Bradford Y","Livingstone M","Verma A","Hernandez J","Stephanowski J","Kalyuskin E","Nafde M","Krasheninina O","Soon Sul J","Graubard BI","Abecasis G","Solari G","Lattari M","Chen L","Campos A","Kosmicki J","De T","Dunn J","Ziyatdinov A","Haley J","Du H","Edelstein E","Malhotra S","Geisinger-Regeneron DiscovEHR Collaboration and Penn Medicine Biobank","Sreeram S","Gokhale S","Zou Y","Hankins J","Mbatchou J","Zavala V","Alvarez S","Delaneau O","Willer C","Guan J","Gorovits A","Romero L","Hart S","Mitnaul L","Rodriguez-Flores J","Drivas T","Challa P","Mahajan V","Tzoneva G","Cremona LM","Skead K","Zhang J","Zhang L","Guerreiro R","Adhikari K","Baras A","Shidhaye D","Zhang C","Zhang B","Zhang A","Riaz M","Wendt F","Geraghty B","Weaver J","Kripke CM","Mule P","Gelfman S","Schiavo R","Nakka P","Guevara K","Wu KH","Kessler M","Kim J","Corrigan D","Sarwar M","Tang M","Naseer N","Deubler A","Salerno W","Burch K","Bras J","DerOhannessian S","Zarate S","Boutkov B","Romero Martinez S","Balasubramanian S","Kapoor M","Fenney A","Han A","Risman M","Locke A","Hobbs B","Tran T","Ramos M","Ko YA","Bovijn J","Silver J","Kumar V","Rajagopal V","Wang C","Coppola G","Jorgenson E","Sultan B","Sun L","Pandit A","Goyal M","Vedantam S","Judy R","Wang R","Lanche R","Haubein N","Pawan Punuru K","Poindexter A","Backman J","Sun K","Mirshahi UL","Perez-Beals A","Lakshmi Vasireddy S","Habegger L","Damrauer S","Pradhan M","Stewart DR","Aqeel M","Carey D","Graham S","Khiabanian H","Portnoy J","Sotiropoulos Padilla M","Gillies C","Pagan M","Rader DJ","Rasool A","Moscati A","Wold SE","Katki HA","Overton JD","Joseph T","Mitra G","Rivera-Picart J","Hawes A","Herman J","Shuldiner A","Choi S","Dudek S","Vadivieso F","Reid JG","Schwartz R","Gurski L","Alkelai A","Palmer W","Verma SS","Beechert C","Gu Z","Bao S","Joshi A","Allen Revez Ferreira M","Sidore C","Jallow MW","Smith R","Brown J","Fuller E","Sosina O"],"additional_accession":[]},"is_claimable":false,"name":"Genomic Ascertainment of CHEK2-Related Cancer Predisposition.","description":"<h4>Importance</h4>There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers.<h4>Objective</h4>To quantify the prevalence of as well as cancer risk and survival associated with CHEK2 germline pathogenic and likely pathogenic variants using genomic ascertainment.<h4>Design, setting, and participants</h4>This case-control study used 2 electronic health record-linked and exome-sequenced biobanks: UK Biobank (n = 469 765) and Geisinger MyCode (adults only; n = 167 050). Variants were classified according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. Cases were defined as individuals with heterozygous CHEK2, harboring pa","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-06T05:36:18.828Z","creation":"2026-05-26T03:12:12.332Z"},"accession":"S-EPMC12706675","cross_references":{"pubmed":["41396600"],"doi":["10.1001/jamanetworkopen.2025.49730"]}}