{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lin WY"],"funding":["Cancer Research UK","World Health Organization","NIMH NIH HHS","NHLBI NIH HHS","Cancer Foundation Finland sr","ZonMw","CIHR","CCR NIH HHS","Yorkshire Cancer Research","The Francis Crick Institute","Dutch Research Council (NWO)","National Institute for Health Research (NIHR)","NCI NIH HHS","Wellcome Trust"],"pagination":["285-98"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4334820"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(1)"],"pubmed_abstract":["Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further "],"journal":["Human molecular genetics"],"pubmed_title":["Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk."],"pmcid":["PMC4334820"],"funding_grant_id":["C5047/A10692","C12292/A11174","C1287/A10118","R01CA148667","C1281/A12014","MH090937","MH090936","090532","R01 CA128978","HHSN261200800001E","HHSN261200800001C","15106","11022","16561","CA54281","CA176785","C8620/A8372","16563","130168","C490/A16561","R01 CA176785","R01CA100374","P50 CA116201","MH090948","R01 CA148667","001","R01 CA092447","P30 CA015083","MH090941","S299","1U19 CA148112","U01 CA69417","R01 MH090937","S295","R01 MH090936","R37CA70867","CA098758","5UO1CA098233","U01 CA116167","CA 65725","RFA-CA-06-503","CA63464","CA132839","P30 CA68485","184.021.007","U01CA69467","10118","CA67262","MH090951","R01 MH090941","03/DHCS/03/G121/51","R01 CA77398","CA49449","R01 CA163353","UM1 CA164920","1U19 CA148065","R01 MH090948","1U19 CA148537","U01 CA69638","91756341","CA87969","C1287/A 10710","C490/A10124","140141","R01CA64277","HHSN268201000029C","C5047/A8384","R01 MH090951","CA116201","CA116167","CA50385","10124","CA128978","C5047/A15007"],"pubmed_authors":["Flesch-Janys D","Southey MC","Cross SS","Ding SL","Le Marchand L","Perkins B","Labreche F","Burwinkel B","Easton DF","Muranen TA","Fletcher O","Wauters E","Tollenaar RA","Shen CY","Bacot F","Hein R","Hooning MJ","Hall P","Healey CS","Schmutzler RK","Muller-Myhsok B","Ghoussaini M","Beesley J","Figueroa J","Miller N","Rudolph A","Jaworska-Bieniek K","Th Rutgers EJ","Luccarini C","Bojesen SE","Schmidt DF","Bogdanova NV","Dumont M","Camp NJ","Peterlongo P","Tessier DC","Antonenkova NN","Van Den Ouweland AM","Pita G","Lindblom A","Lambrechts D","Manoukian S","Henderson BE","Wu AH","Putti TC","Vincent D","Garcia-Closas M","Blot W","Beckmann L","Hassan N","Toland AE","Seynaeve C","Guenel P","Turnbull CA","Jager A","Nordestgaard BG","Swerdlow AJ","Menendez P","Simard J","Chenevix-Trench G","Kauppila S","Stewart-Brown S","Yip CH","Chanock SJ","Hartikainen JM","Milne RL","Li J","Wu PE","Fasching PA","Teo SH","Jones M","Schmidt MK","Nevanlinna H","Michailidou K","Eriksson M","Cai Q","Liu J","Marme F","Johnson N","Glendon G","Pylkas K","Maranian M","Deming-Halverson S","Hunter DJ","Cai H","Hollestelle A","Alonso MR","Horio A","Radice P","Yannoukakos D","Gao YT","Muir K","Yoo KY","Haiman CA","Herrero D","Alvarez N","Surowy HM","Dennis J","Iwata H","Sawyer EJ","Brinton L","Mclean C","Brand JS","Jakubowska A","Adank MA","Lissowska J","Van Der Luijt RB","Hartman M","Mannermaa A","Slager S","Bruning T","Shah M","Flyger H","Dork T","Ahmed S","Baynes C","Vachon C","Lubinski J","Apicella C","Kerin MJ","Mckay J","Blomqvist C","Waisfisz Q","Darabi H","Ekici AB","GENICA Network","Zheng W","Jukkola-Vuorinen A","Humphreys K","Peto J","Aaltonen K","Brenner H","Shrubsole MJ","Truong T","Winqvist R","Blows FM","Kataja V","Hsiung CN","Dunning A","Brauch H","Wildiers H","Dahmen N","Van Den Berg D","Signorello LB","Cheng T","Kristensen V","Benitez J","Bonanni B","Gaborieau V","Lin WY","Mulot C","Knight JA","Bui QM","Cox A","Broeks A","Ko YD","Kosma VM","Lu W","Goldberg MS","Andrulis IL","Matsuo K","Reed MW","Durda K","Lophatananon A","Pharoah PD","Seibold P","Schumacher F","Wang Q","Kang D","Ito H","Purrington K","Couch FJ","Wang X","Siriwanarangsan P","Aittomaki K","Arias Perez JI","Bolla MK","Sangrajrang S","Brennan P","Chang-Claude J","Australian Ovarian Cancer Study Group","Chia KS","Tseng CC","Stegmaier C","Makalic E","Rahman N","Heikkinen T","Nielsen SF","Meijers-Heijboer HE","Vithana EN","Orr N","Neven P","Arndt V","Anton-Culver H","Long J","Stone J","Miao H","Van Asperen CJ","Noh DY","Tomlinson I","Irwanto A","Dieffenbach AK","Ashworth A","Van't Veer LJ","Beckmann MW","Giles GG","Devilee P","Tsimiklis H","Breast and Ovarian Cancer Susceptibility (BOCS) Study","Gonzalez-Neira A","Czene K","Margolin S","Shu XO","Haeberle L","Tchatchou S","Stram DO","Menegaux F","Zamora MP","Lichtner P","Hopper JL","Dos-Santos-Silva I","kConFab Investigators","Hamann U","Meindl A","Khan S"],"additional_accession":[]},"is_claimable":false,"name":"Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.","description":"Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further ","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Jan","modification":"2026-05-03T07:42:38.477Z","creation":"2026-04-07T19:02:26.422Z"},"accession":"S-EPMC4334820","cross_references":{"pubmed":["25168388"],"doi":["10.1093/hmg/ddu431"]}}