2021
Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement
Bratslavsky G, Mendhiratta N, Daneshvar M, Brugarolas J, Ball MW, Metwalli A, Nathanson KL, Pierorazio PM, Boris RS, Singer EA, Carlo MI, Daly MB, Henske EP, Hyatt C, Middleton L, Morris G, Jeong A, Narayan V, Rathmell WK, Vaishampayan U, Lee BH, Battle D, Hall MJ, Hafez K, Jewett MAS, Karamboulas C, Pal SK, Hakimi AA, Kutikov A, Iliopoulos O, Linehan WM, Jonasch E, Srinivasan R, Shuch B. Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement. Cancer 2021, 127: 3957-3966. PMID: 34343338, PMCID: PMC8711633, DOI: 10.1002/cncr.33679.Peer-Reviewed Original ResearchConceptsRenal cell carcinomaGenetic risk assessmentHereditary renal cell carcinomaCell carcinomaConsensus statementMedical oncologistsMultidisciplinary panelPatient advocatesConsensus questionsClinical consensus statementHereditary kidney cancerMultigene panel testingClinical geneticistsFamily history criteriaPaucity of guidelinesUniform consensusStrong hereditary componentCurrent opinionGenetic counselorsMultifocal diseaseConsensus panelSpecific histologyKidney cancerRisk assessmentPanel testing
2020
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Kramer I, Hooning M, Mavaddat N, Hauptmann M, Keeman R, Steyerberg E, Giardiello D, Antoniou A, Pharoah P, Canisius S, Abu-Ful Z, Andrulis I, Anton-Culver H, Aronson K, Augustinsson A, Becher H, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Bremer M, Brucker S, Burwinkel B, Castelao J, Chan T, Chang-Claude J, Chanock S, Chenevix-Trench G, Choi J, Clarke C, Collée J, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Evans D, Fasching P, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz J, Giles G, Goldgar D, González-Neira A, Haiman C, Håkansson N, Hamann U, Hartman M, Heemskerk-Gerritsen B, Hollestelle A, Hopper J, Hou M, Howell A, Ito H, Jakimovska M, Jakubowska A, Janni W, John E, Jung A, Kang D, Kets C, Khusnutdinova E, Ko Y, Kristensen V, Kurian A, Kwong A, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Meindl A, Milne R, Mulligan A, Muranen T, Neuhausen S, Nevanlinna H, Newman W, Olshan A, Olson J, Olsson H, Park-Simon T, Peto J, Petridis C, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Radice P, Rennert G, Romero A, Roylance R, Saloustros E, Sawyer E, Schmutzler R, Schwentner L, Scott R, See M, Shah M, Shen C, Shu X, Siesling S, Slager S, Sohn C, Southey M, Spinelli J, Stone J, Tapper W, Tengström M, Teo S, Terry M, Tollenaar R, Tomlinson I, Troester M, Vachon C, van Ongeval C, van Veen E, Winqvist R, Wolk A, Zheng W, Ziogas A, Easton D, Hall P, Schmidt M, Børresen-Dale A, Sahlberg K, Ottestad L, Kåresen R, Schlichting E, Holmen M, Sauer T, Haakensen V, Engebråten O, Naume B, Fosså A, Kiserud C, Reinertsen K, Helland Å, Riis M, Geisler J, Alnæs G, Clarke C, Marsh D, Scott C, Baxter R, Yip D, Carpenter J, Davis A, Pathmanathan N, Simpson P, Graham J, Sachchithananthan M, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Cummings M, Dawson S, deFazio A, Delatycki M, Dickson R, Dixon J, Edkins T, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lindeman G, Lipton L, Lobb L, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Patterson B, Pearn A, Phillips K, Pieper E, Rickard E, Robinson B, Saleh M, Salisbury E, Saunders C, Saunus J, Scott C, Scott C, Sexton A, Shelling A, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. American Journal Of Human Genetics 2020, 107: 837-848. PMID: 33022221, PMCID: PMC7675034, DOI: 10.1016/j.ajhg.2020.09.001.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAsian PeopleBreast NeoplasmsCohort StudiesEstrogen Receptor alphaFemaleGene ExpressionGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansMiddle AgedMultifactorial InheritanceNeoadjuvant TherapyNeoplasms, Second PrimaryPrognosisProportional Hazards ModelsReceptor, ErbB-2Receptors, ProgesteroneRisk AssessmentWhite PeopleConceptsContralateral breast cancerPolygenic risk scoresInvasive breast cancerCBC risk prediction modelAssociated with increased CBC riskRisk of contralateral breast cancerBreast Cancer Association ConsortiumBreast cancerWomen of European ancestryStudies of Asian womenAbsolute lifetime riskUnilateral breast cancerEvidence of confoundingRisk prediction modelFollow-upStratify womenEuropean ancestryFamily historyHazard ratioRisk scoreLogistic regressionAsian womenEuropean womenGermline variantsOptimal surveillance
2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer J, Chen T, Wang Q, Bolla M, Yang X, Adank M, Ahearn T, Aittomäki K, Allen J, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Auvinen P, Barrdahl M, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova N, Bojesen S, Bonanni B, Børresen-Dale A, Brauch H, Bremer M, Brenner H, Brentnall A, Brock I, Brooks-Wilson A, Brucker S, Brüning T, Burwinkel B, Campa D, Carter B, Castelao J, Chanock S, Chlebowski R, Christiansen H, Clarke C, Collée J, Cordina-Duverger E, Cornelissen S, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles D, Ekici A, Eliassen A, Ellberg C, Engel C, Eriksson M, Evans D, Fasching P, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Gilyazova I, Glendon G, Goldberg M, Goldgar D, González-Neira A, Alnæs G, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hamann U, Hankinson S, Harkness E, Hart S, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning M, Hoover R, Hopper J, Howell A, Huang G, Humphreys K, Hunter D, Jakimovska M, Jakubowska A, Janni W, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Knight J, Ko Y, Kosma V, Koutros S, Kristensen V, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo W, Loibl S, Long J, Lubiński J, Lux M, MacInnis R, Maishman T, Makalic E, Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens J, Martinez M, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan A, Mulot C, Muñoz-Garzon V, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Norman A, Offit K, Olson J, Olsson H, Orr N, Pankratz V, Park-Simon T, Perez J, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley E, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert H, Rhenius V, Robson M, Romero A, Ruddy K, Ruebner M, Saloustros E, Sandler D, Sawyer E, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott R, Seynaeve C, Shah M, Sherman M, Shrubsole M, Shu X, Slager S, Smeets A, Sohn C, Soucy P, Southey M, Spinelli J, Stegmaier C, Stone J, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Thöne K, Tollenaar R, Tomlinson I, Truong T, Tzardi M, Ulmer H, Untch M, Vachon C, van Veen E, Vijai J, Weinberg C, Wendt C, Whittemore A, Wildiers H, Willett W, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, Investigators A, Investigators K, Collaborators N, Dunning A, Thompson D, Chenevix-Trench G, Chang-Claude J, Schmidt M, Hall P, Milne R, Pharoah P, Antoniou A, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton D. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal Of Human Genetics 2018, 104: 21-34. PMID: 30554720, PMCID: PMC6323553, DOI: 10.1016/j.ajhg.2018.11.002.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresSingle-nucleotide polymorphismsBreast cancer prevention programsPredictor of breast cancer riskCase subjectsRisk of breast cancerOverall breast cancerRisk scoreBreast cancerBreast cancer riskControl subjects of European ancestryCancer prevention programsSubjects of European ancestryArea under receiver-operating curveProspective studyGenome-wide association datasetER-negative diseaseUK BiobankCancer riskStratification of womenGenome-wide arrayMiddle quintileLifetime riskImprove screeningLasso penalized regression
2015
Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen S, Moller P, Ainsworth P, Sun P, Narod S, Lubinski J, Kotsopoulos J, Group B, Lynch H, Cybulski C, Kim-Sing C, Friedman S, Senter L, Weitzel J, Singer C, Eng C, Mitchell G, Huzarski T, McCuaig J, Eisen A, Gilchrist D, Blum J, Zakalik D, Pal T, Daly M, Weber B, Snyder C, Fallen T, Chudley A, Lunn J, Donenberg T, Kurz R, Saal H, Garber J, Rennert G, Sweet K, Rappaport C, Lemire E, Stoppa-Lyonnet D, Olopade O, Merajver S, Bordeleau L, Cullinane C, Friedman E, McKinnon W, Wood M, Rayson D, Meschino W, Costalas J, Reilly R, Vadaparampil S, Offit K, Kauff N, Euhus D, Kwong A, Isaacs C, Couch F, Manoukian S, Byrski T, Elser C, Panchal S, Armel S, Demsky R, Nanda S, Metcalfe K, Poll A, Foulkes W, Robidoux A, Warner E, Maehle L, Evans G, Pasini B, Ginsburg O, Cohen S, Jakubowska A, Little J. Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Fertility And Sterility 2015, 105: 781-785. PMID: 26698676, DOI: 10.1016/j.fertnstert.2015.11.034.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBRCA1 ProteinBRCA2 ProteinCase-Control StudiesChi-Square DistributionDNA Mutational AnalysisFemaleFertilityFertility Agents, FemaleFertilization in VitroGenetic Predisposition to DiseaseHumansInfertilityInsemination, ArtificialLogistic ModelsMiddle AgedMultivariate AnalysisMutationOdds RatioOvarian NeoplasmsPregnancyReproductive Techniques, AssistedRisk AssessmentRisk FactorsSurveys and QuestionnairesTreatment OutcomeYoung AdultConceptsRisk of ovarian cancerOvarian cancerTreatment of infertilityBRCA2 mutationsEstimate odds ratiosBRCA2 mutation carriersConditional logistic regressionFertility medicationsDiagnosis of ovarian cancerCase-control studyOdds ratioBRCA mutationsMutation carriersLogistic regressionAdministered questionnairesIVF treatmentBRCA2BRCA1CancerInfertilityInfertility treatmentWomenRiskMedicationTreatmentBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys S, Hopper J, Southey M, Tesoriero A, Investigators K, James P, Bruinsma F, Campbell I, Group A, Broeks A, Schmidt M, Hogervorst F, HEBON, Beckman M, Fasching P, Fletcher O, Johnson N, Sawyer E, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry K, Poole E, Tworoger S, Dorfling C, van Rensburg E, Godwin A, Guénel P, Truong T, Collaborators G, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova O, Isaacs C, Maugard C, Bojesen S, Flyger H, Gerdes A, Hansen T, Jensen A, Kjaer S, Hogdall C, Hogdall E, Pedersen I, Thomassen M, Benitez J, González-Neira A, Osorio A, de la Hoya M, Segura P, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John E, Neuhausen S, Ding Y, Castillo D, Weitzel J, Ganz P, Nussbaum R, Chan S, Karlan B, Lester J, Wu A, Gayther S, Ramus S, Sieh W, Whittermore A, Monteiro A, Phelan C, Terry M, Piedmonte M, Offit K, Robson M, Levine D, Moysich K, Cannioto R, Olson S, Daly M, Nathanson K, Domchek S, Lu K, Liang D, Hildebrant M, Ness R, Modugno F, Pearce L, Goodman M, Thompson P, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari L, Aittomäki K, Butzow R, Bogdanova N, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma V, Mannermaa A, Lambrechts D, Neven P, Claes K, Van Maerken T, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira M, Collavoli A, Hallberg E, Olson J, Goode E, Hart S, Shimelis H, Cunningham J, Giles G, Milne R, Healey S, Tucker K, Haiman C, Henderson B, Goldberg M, Tischkowitz M, Simard J, Soucy P, Eccles D, Le N, Borresen-Dale A, Kristensen V, Salvesen H, Bjorge L, Bandera E, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar R, van der Ouweland A, Andrulis I, Knight J, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene M, L. P, Loud J, García-Closas M, Schoemaker M, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park S, Teo S, Yoon S, Matsuo K, Hosono S, Woo Y, Gao Y, Foretova L, Singer C, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov E, Hulick P, Olopade O, Senter L, Olah E, Doherty J, Schildkraut J, Koppert L, Kiemeney L, Massuger L, Cook L, Pejovic T, Li J, Borg A, Öfverholm A, Rossing M, Wentzensen N, Henriksson K, Cox A, Cross S, Pasini B, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson B, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, in the genome P, Antoniou A, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning A, Pharoah P, Hall P, Easton D, Couch F, Spurdle A, Goldgar D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal Of The National Cancer Institute 2015, 108: djv315. PMID: 26586665, PMCID: PMC4907358, DOI: 10.1093/jnci/djv315.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerVariant carriersCancer riskEstrogen receptor-negative breast cancerReceptor-negative breast cancerCancer case patientsInvasive ovarian cancerHormone-related cancersProstate cancer riskConfidence intervalsOvarian cancer riskSignificant inverse associationCox proportional hazardsSerous ovarian cancerRisk of breastBRCA1 mutation carriersPathogenic BRCA2 variantsControl patientsCase patientsInverse associationOdds ratioProstate cancerMutation carriersProportional hazards
2012
Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers
Finkelman B, Rubinstein W, Friedman S, Friebel T, Dubitsky S, Schonberger N, Shoretz R, Singer C, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Schildkraut J, Daly M, Isaacs C, Pichert G, Neuhausen S, Couch F, Veer L, Eeles R, Bancroft E, Evans D, Ganz P, Tomlinson G, Narod S, Matloff E, Domchek S, Rebbeck T. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Journal Of Clinical Oncology 2012, 30: 1321-1328. PMID: 22430266, PMCID: PMC3341145, DOI: 10.1200/jco.2011.37.8133.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedBreast NeoplasmsCohort StudiesConfidence IntervalsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHeterozygoteHumansIncidenceJewsMiddle AgedOdds RatioOvarian NeoplasmsPrevalencePrognosisProportional Hazards ModelsRisk AssessmentRisk Reduction BehaviorConceptsRisk-reducing salpingo-oophorectomyRisk of breast cancerOvarian cancer riskCancer riskRelative risk of breast cancerRisk reductionPopulation-based cohort studyBRCA1/2-positive womenMutation carriersCancer risk reductionBRCA1/2 mutation carriersRisk of cancerBreast cancerJewish womenCox proportional hazards modelsOvarian cancerNon-Jewish womenEstimate breastBRCA1/2 carriersProportional hazards modelBRCA2 carriersClinical careRelative riskBRCA1/2 mutationsCohort study
2002
Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers
Narod S, Dubé M, Klijn J, Lubinski J, Lynch H, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber J, Neuhausen S, Ainsworth P, Olsson H, Evans G, Osborne M, Couch F, Foulkes W, Warner E, Kim-Sing C, Olopade O, Tung N, Saal H, Weitzel J, Merajver S, Gauthier-Villars M, Jernstrom H, Sun P, Brunet J. Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. Journal Of The National Cancer Institute 2002, 94: 1773-1779. PMID: 12464649, DOI: 10.1093/jnci/94.23.1773.Peer-Reviewed Original ResearchConceptsRisk of breast cancerIncreased risk of breast cancerBRCA1 mutation carriersBRCA2 mutation carriersMutation carriersOral contraceptive useBRCA2 carriersAssociated with risk of breast cancerIncreased riskRisk of early-onset breast cancerIncreased risk of early-onset breast cancerBreast cancerOdds ratioOral contraceptivesHistory of ovarian cancerEarly-onset breast cancerConfidence intervalsConditional logistic regressionBreast cancer susceptibility genesAssociated with riskYear of birthCancer susceptibility genesContraceptive useCase-control studyPairs of women