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
2009
Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers
Rebbeck T, Mitra N, Domchek S, Wan F, Chuai S, Friebel T, Panossian S, Spurdle A, Chenevix-Trench G, Singer C, Pfeiler G, Neuhausen S, Lynch H, Garber J, Weitzel J, Isaacs C, Couch F, Narod S, Rubinstein W, Tomlinson G, Ganz P, Olopade O, Tung N, Blum J, Greenberg R, Nathanson K, Daly M. Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research 2009, 69: 5801-5810. PMID: 19584272, PMCID: PMC2751603, DOI: 10.1158/0008-5472.can-09-0625.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCarrier ProteinsCell Cycle ProteinsDNA Repair EnzymesDNA-Binding ProteinsEndodeoxyribonucleasesFanconi Anemia Complementation Group ProteinsFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHumansMiddle AgedMRE11 Homologue ProteinMutationNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRad51 RecombinaseRisk FactorsRNA HelicasesTumor Suppressor ProteinsUbiquitin-Protein LigasesConceptsAssociated with ovarian cancer riskOvarian cancer riskBRCA1/2 mutation carriersCancer riskMutation carriersElevated ovarian cancer riskOvarian cancer risk assessmentBRCA1/2 mutationsInherited BRCA1/2 mutationsBRCA2 mutation carriersCancer risk assessmentStatistically significant associationBRCA2 carriersBRCA1 carriersEvaluated haplotypesKnowledge of factorsHaplotype associationSignificant associationOvarian cancerRare haplotypesMulticenter cohortBRCA2BRIP1BRCA1/2Haplotypes
1996
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
Tonin P, Weber B, Offit K, Couch F, Rebbeck T, Neuhausen S, Godwin A, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane M, Kolodner R, Krainer M, Haber D, Struewing J, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes W, Lynch H, Lenoir G, Narod S, Garber J. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 1996, 2: 1179-1183. PMID: 8898735, DOI: 10.1038/nm1196-1179.Peer-Reviewed Original Research