{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mueller SH"],"funding":["Intramural NIH HHS","Cancer Research UK","World Health Organization","European Research Council","NCCDPHP CDC HHS","FIC NIH HHS","NIEHS NIH HHS","Medical Research Council","National Institute for Health Research (NIHR)","NCI NIH HHS","Cancer Foundation Finland sr","Wellcome Trust"],"pagination":["7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9878779"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["<h4>Background</h4>Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.<h4>Methods</h4>We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.<h4>Results</h4>In European ancestry samples, 14 gen"],"journal":["Genome medicine"],"pubmed_title":["Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry."],"pmcid":["PMC9878779"],"funding_grant_id":["C5047/A10692","1000143","U19 CA148537","U01 CA176726","C12292/A11174","C1287/A10118","C1281/A12014","U01 CA179715","C1287/A10710","HDR-9003","29186","K24 CA169004","R01 CA120120","NU58DP006344","U19 CA148065","14136","R35 CA253187","U54 CA156733","C1275/C22524","P50 CA125183","G1000143","Z01 ES049030","D43 TW009112","C8221/A19170","HHSN261201800009I","Z01 ES049033","16563","C490/A16561","948561","P30 CA033572","R01 CA176785","P30 ES010126","C1275/A11699","203477/Z/16/Z","U01 CA199277","R01 CA148667","001","P50 CA058223","MR/M012190/1","220031","Z01 CP010119","C570/A16491","C1275/A19187","UM1 CA186107","PGFAR 0707-10031","P30 CA008748","C1287/A16563","C8197/A16565","10118","HHSN261201800032I","R01 CA116167","DRCPGM\\100071","UM1 CA164920","P30 CA023100","U01 CA164920","R01 CA077398","UM1 CA164917","C1275/A15956","C490/A10124","R01 CA100374","HHSN261201800015I","R01 CA192393","C5047/A8384","UM1 CA176726","R03 CA130065","IS-BRC-1215-20007","U19 CA148112","C5047/A15007","Z01 ES044005","MC_UU_00004/01"],"pubmed_authors":["Mavroudis D","Taylor JA","Patel A","NBCS Collaborators","Perou CM","Ahearn TU","Tollenaar RAEM","Le Marchand L","Easton DF","Hoppe R","Wolk A","Lo WY","Teras LR","Reinertsen KV","Fletcher O","Jones ME","Kitahara CM","Shen CY","Rack B","Olopade OI","Harrington PA","Hall P","Hooning MJ","Schmutzler RK","Genkinger J","Harkness EF","Marsh D","Abu-Ful Z","Lush M","Hein A","Vijai J","Dwek M","Ho WK","Riis M","Ziv E","Garcia-Saenz JA","Holmen MM","Bojesen SE","Plaseska-Karanfilska D","Ramachandran D","Bogdanova NV","Torres-Mejia G","Daly MB","John EM","Manoochehri M","Yamaji T","Haakensen V","Antonenkova NN","Augustinsson A","Sachchithananthan M","Eccles DM","Fossa A","Lambrechts D","Rennert G","Yip D","Wu AH","Kuchenbaecker KB","Dossus L","Baert T","Kim SW","Garcia-Closas M","Kubelka-Sabit K","Toland AE","Engebraten O","Olsson H","Offit K","Guenel P","Pharoah PDP","Mueller SH","Hemingway H","Evans DG","Simard J","Davis A","Chanock SJ","Hartikainen JM","Li J","Sharma P","Chan TL","Hahnen E","Huo D","Howell A","Fasching PA","Kwong A","Teo SH","Schmidt MK","Nevanlinna H","Michailidou K","Houlston RS","Ruddy KJ","Scott C","Karesen R","Linet M","ABCTB Investigators","Hunter DJ","Menon U","Radice P","Troester MA","Scott R","Gao YT","Muir K","Haiman CA","Patel AV","Romero A","Ruebner M","Dennis J","Sawyer EJ","Helland A","Castelao JE","Jakubowska A","Hartman M","Mannermaa A","Shah M","Schlichting E","Flyger H","O'Brien KM","Dork T","Obi N","Kiserud CE","Koutros S","Blomqvist C","Brucker SY","Gentry-Maharaj A","Baxter R","Sahlberg KK","Sauer T","Ekici AB","Valkovskaya M","Wendt C","Gundert M","Zheng W","Khusnutdinova EK","Peto J","Brenner H","Truong T","Winqvist R","Lacey JV","Kaaks R","Hakansson N","Murphy RA","Chung WK","Benitez J","Engel C","Bonanni B","Yang XR","Torres D","Kurian AW","Behrens S","Niederacher D","Surowy H","Ziogas A","Lai AG","Gago-Dominguez M","Jung A","Ottestad L","Buys SS","Simpson P","Dunning AM","Rashid MU","Andrulis IL","Yu JC","Kristensen VN","Matsuo K","Lophatananon A","Carpenter J","Weinberg CR","Wang Q","Kang D","Ito H","Couch FJ","Tapper WJ","Bolla MK","Chang-Claude J","Graham D","Aronson KJ","Freeman LEB","CTS Consortium","Olshan AF","Cornelissen S","Colonna SV","Arndt V","Kraft P","Saloustros E","Grassmann F","Anton-Culver H","Vachon CM","Geisler J","Long J","Presneau N","Beckmann MW","Devilee P","Tamimi RM","Borresen-Dale AL","Iwasaki M","Park SK","Schneider MO","Czene K","Margolin S","Shu XO","Haeberle L","Newman WG","Sandler DP","Grenaker Alnaes GI","Eliassen AH","Hopper JL","Naume B","Choi JY","Bermisheva M","Hamann U","Janni W","Pathmanathan N"],"additional_accession":[]},"is_claimable":false,"name":"Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.","description":"<h4>Background</h4>Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.<h4>Methods</h4>We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.<h4>Results</h4>In European ancestry samples, 14 gen","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-07-14T21:10:43.539Z","creation":"2026-06-24T03:11:19.037Z"},"accession":"S-EPMC9878779","cross_references":{"pubmed":["36703164"],"doi":["10.1186/s13073-022-01152-5"]}}