2025
Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions
Jia G, Chen Z, Ping J, Cai Q, Tao R, Li C, Bauer J, Xie Y, Ambs S, Barnard M, Chen Y, Choi J, Gao Y, Garcia-Closas M, Gu J, Hu J, Iwasaki M, John E, Kweon S, Li C, Matsuda K, Matsuo K, Nathanson K, Nemesure B, Olopade O, Pal T, Park S, Park B, Press M, Sanderson M, Sandler D, Shen C, Troester M, Yao S, Zheng Y, Ahearn T, Brewster A, Falusi A, Hennis A, Ito H, Kubo M, Lee E, Makumbi T, Ndom P, Noh D, O’Brien K, Ojengbede O, Olshan A, Park M, Reid S, Yamaji T, Zirpoli G, Butler E, Huang M, Low S, Obafunwa J, Weinberg C, Zhang H, Zhao H, Cote M, Ambrosone C, Huo D, Li B, Kang D, Palmer J, Shu X, Haiman C, Guo X, Long J, Zheng W. Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions. Nature Genetics 2025, 57: 80-87. PMID: 39753771, PMCID: PMC12184877, DOI: 10.1038/s41588-024-02031-y.Peer-Reviewed Original ResearchConceptsFine-mapping analysisAssociation signalsRisk lociBreast cancer genetic riskGenome-wide association study dataBreast cancer risk lociFemale breast cancer casesGenome-wide association studiesCancer genetic riskBreast cancer geneticsBreast cancer riskFunctional genomics dataCredible causal variantsCancer risk lociGenetic risk lociBreast cancer casesSingle-cell RNA sequencingBreast cancerCausal variantsFine-mappingGenomic dataAssociation studiesCancer riskCancer geneticsCancer cases
2024
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Chen Z, Guo X, Tao R, Huyghe J, Law P, Fernandez-Rozadilla C, Ping J, Jia G, Long J, Li C, Shen Q, Xie Y, Timofeeva M, Thomas M, Schmit S, DĂez-Obrero V, Devall M, Moratalla-Navarro F, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu X, Lu Y, Broderick P, Studd J, Harrison T, Conti D, Schumacher F, Melas M, Rennert G, ObĂłn-Santacana M, MartĂn-Sánchez V, Oh J, Kim J, Jee S, Jung K, Kweon S, Shin M, Shin A, Ahn Y, Kim D, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao Y, Jia W, Hopper J, Jenkins M, Win A, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin J, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, CastellvĂ-Bel S, Moreira L, Arndt V, Shcherbina A, Bishop D, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su Y, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez M, Thomas S, Pharoah P, Larsson S, Yen Y, Lenz H, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Edlund C, Gauderman W, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Pardini B, FitzGerald L, Lee S, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, BĂ©zieau S, Yamaji T, Sawada N, Iwasaki M, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi L, Lau K, Zhao H, Hsu L, Cai Q, Dunlop M, Gruber S, Houlston R, Moreno V, Casey G, Peters U, Tomlinson I, Zheng W. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes. Nature Communications 2024, 15: 3557. PMID: 38670944, PMCID: PMC11053150, DOI: 10.1038/s41467-024-47399-x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCredible causal variantsColorectal cancer susceptibility genesSusceptibility genesAssociation signalsAnalysis of single-cell RNA-seq dataAnalysis of whole-exome sequencing dataGenome-wide association study dataColorectal cancer risk lociSingle-cell RNA-seq dataTarget genesWhole-exome sequencing dataFunctional genomic investigationsFine-mapping analysisRNA-seq dataExome sequencing dataTissue-specific transcriptomesColorectal cancerCancer susceptibility genesCausal variantsFine-mappingRisk lociMethylome dataSequence dataGenomic investigations
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