2024
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters R, Liu X, Busch A, Helgason H, Thompson D, Santoni F, Petricek K, Zouaghi Y, Huang-Doran I, Gudbjartsson D, Bratland E, Lin K, Gardner E, Zhao Y, Jia R, Terao C, Riggan M, Bolla M, Yazdanpanah M, Yazdanpanah N, Bradfield J, Broer L, Campbell A, Chasman D, Cousminer D, Franceschini N, Franke L, Girotto G, He C, Järvelin M, Joshi P, Kamatani Y, Karlsson R, Luan J, Lunetta K, Mägi R, Mangino M, Medland S, Meisinger C, Noordam R, Nutile T, Concas M, Polašek O, Porcu E, Ring S, Sala C, Smith A, Tanaka T, van der Most P, Vitart V, Wang C, Willemsen G, Zygmunt M, Ahearn T, Andrulis I, Anton-Culver H, Antoniou A, Auer P, Barnes C, Beckmann M, Berrington de Gonzalez A, Bogdanova N, Bojesen S, Brenner H, Buring J, Canzian F, Chang-Claude J, Couch F, Cox A, Crisponi L, Czene K, Daly M, Demerath E, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning A, Dwek M, Eriksson J, Fasching P, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz J, González-Neira A, Grallert H, Guénel P, Haiman C, Hall P, Hamann U, Hakonarson H, Hart R, Hickey M, Hooning M, Hoppe R, Hopper J, Hottenga J, Hu F, Huebner H, Hunter D, Jernström H, John E, Karasik D, Khusnutdinova E, Kristensen V, Lacey J, Lambrechts D, Launer L, Lind P, Lindblom A, Magnusson P, Mannermaa A, McCarthy M, Meitinger T, Menni C, Michailidou K, Millwood I, Milne R, Montgomery G, Nevanlinna H, Nolte I, Nyholt D, Obi N, O’Brien K, Offit K, Oldehinkel A, Ostrowski S, Palotie A, Pedersen O, Peters A, Pianigiani G, Plaseska-Karanfilska D, Pouta A, Pozarickij A, Radice P, Rennert G, Rosendaal F, Ruggiero D, Saloustros E, Sandler D, Schipf S, Schmidt C, Schmidt M, Small K, Spedicati B, Stampfer M, Stone J, Tamimi R, Teras L, Tikkanen E, Turman C, Vachon C, Wang Q, Winqvist R, Wolk A, Zemel B, Zheng W, van Dijk K, Alizadeh B, Bandinelli S, Boerwinkle E, Boomsma D, Ciullo M, Chenevix-Trench G, Cucca F, Esko T, Gieger C, Grant S, Gudnason V, Hayward C, Kolčić I, Kraft P, Lawlor D, Martin N, Nøhr E, Pedersen N, Pennell C, Ridker P, Robino A, Snieder H, Sovio U, Spector T, Stöckl D, Sudlow C, Timpson N, Toniolo D, Uitterlinden A, Ulivi S, Völzke H, Wareham N, Widen E, Wilson J, Pharoah P, Li L, Easton D, Njølstad P, Sulem P, Murabito J, Murray A, Manousaki D, Juul A, Erikstrup C, Stefansson K, Horikoshi M, Chen Z, Farooqi I, Pitteloud N, Johansson S, Day F, Perry J, Ong K. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature Genetics 2024, 56: 1397-1411. PMID: 38951643, PMCID: PMC11250262, DOI: 10.1038/s41588-024-01798-4.Peer-Reviewed Original ResearchConceptsAllele frequency spectrumLoss-of-function variantsDNA damage responsePolygenic riskAssociated with later health outcomesBody size dependenceGenetic analysisG protein-coupled receptorsGenetic complexityTrait varianceReproductive timingRNA sequencingDamage responseNutritional sensorsPrecocious pubertyOvarian reserveTriggering pubertyGenesHigh riskPuberty timingMenopause timingLife diseasePubertal timingWomenPuberty
2020
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collée J, Cornelissen S, Couch F, Cox A, Cross S, Cybulski C, Czene K, Daly M, de la Hoya M, Devilee P, Diez O, Ding Y, Dite G, Domchek S, Dörk T, dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles D, Engel C, Eriksson M, Evans D, Fasching P, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes W, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz P, Gapstur S, Garber J, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Tibiletti M, Greene M, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hartikainen J, Hartman M, He W, Healey C, Heemskerk-Gerritsen B, Heyworth J, Hillemanns P, Hogervorst F, Hollestelle A, Hooning M, Hopper J, Howell A, Huang G, Hulick P, Imyanitov E, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor P, Karlan B, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Kirk J, Kitahara C, Ko Y, Konstantopoulou I, Kosma V, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo W, Long J, Lophatananon A, Loud J, Lubiński J, MacInnis R, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan A, Muñoz-Garzon V, Muranen T, Narod S, Nassir R, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Nielsen F, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade O, Olsson H, Orr N, Osorio A, Pankratz V, Papp J, Park S, Park-Simon T, Parsons M, Paul J, Pedersen I, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana M, Pylkäs K, Radice P, Ramus S, Rantala J, Rau-Murthy R, Rennert G, Risch H, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler D, Santamariña M, Saunders C, Sawyer E, Scheuner M, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Scott C, Scott R, Senter L, Seynaeve C, Shah M, Sharma P, Shen C, Shu X, Singer C, Slavin T, Smichkoska S, Southey M, Spinelli J, Spurdle A, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tamimi R, Tan Y, Tapper W, Taylor J, Teixeira M, Tengström M, Teo S, Terry M, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Torres-Mejía G, Troester M, Truong T, Tung N, Tzardi M, Ulmer H, Vachon C, van Asperen C, van der Kolk L, van Rensburg E, Vega A, Viel A, Vijai J, Vogel M, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu A, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah P, Chang-Claude J, García-Closas M, Schmidt M, Milne R, Kristensen V, French J, Edwards S, Antoniou A, Chenevix-Trench G, Simard J, Easton D, Kraft P, Dunning A. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics 2020, 52: 56-73. PMID: 31911677, PMCID: PMC6974400, DOI: 10.1038/s41588-019-0537-1.Peer-Reviewed Original ResearchConceptsCausal variantsTranscription factorsTarget genesActive gene regulatory regionsHigh-confidence target genesGenomic feature annotationsGenome-wide association studiesBreast cancer risk variantsGene regulatory regionsCredible causal variantsGene ontology pathwaysChromatin interactionsFunctional annotationGenomic regionsOntology pathwaysRegulatory regionsGenomic featuresCancer driversGene expressionAssociation studiesAssociation analysisGenesLinkage disequilibriumRisk variantsHigh posterior probability
2011
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
Rebbeck T, Mitra N, Domchek S, Wan F, Friebel T, Tran T, Singer C, Tea M, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Antoniou A, Peock S, Evans D, Paterson J, Kennedy M, Donaldson A, Dorkins H, Easton D, Rubinstein W, Daly M, Isaacs C, Nevanlinna H, Couch F, Andrulis I, Freidman E, Laitman Y, Ganz P, Tomlinson G, Neuhausen S, Narod S, Phelan C, Greenberg R, Nathanson K. Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. Cancer Research 2011, 71: 5792-5805. PMID: 21799032, PMCID: PMC3170727, DOI: 10.1158/0008-5472.can-11-0773.Peer-Reviewed Original ResearchConceptsOvarian cancer riskCancer riskAssociation of haplotypesAssociated with ovarian cancer riskBreast cancerBRCA1 mutationsModifiers of cancer riskFalse discovery rateEncode proteinsBRCA1-associated breast cancerElevated cancer riskBRCA1 mutation carriersInherited BRCA1 mutationsOvarian cancer diagnosisSignificant false discovery rateAssociated with timeCancer diagnosisMutation carriersGenomic variationMultiple lociBRCA1BRCC45BreastCancerGenes