2021
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM, Collée J, Couch F, Daly M, Dennis J, Dhawan M, Domchek S, Eeles R, Engel C, Evans D, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz P, Garber J, Gayther S, Gerdes A, Godwin A, Goldgar D, Hahnen E, Hake C, Hamann U, Hogervorst F, Hooning M, Hopper J, Hulick P, Imyanitov E, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen U, Jiao Y, John E, Joseph V, Karlan B, Kets C, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud J, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes D, Montagna M, Mouret-Fourme E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Olah E, Olopade O, Park S, Parsons M, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch H, Schmutzler R, Sharma P, Simard J, Singer C, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tung N, van Rensburg E, Vega A, Wappenschmidt B, Devilee P, van Asperen C, Bernstein J, Offit K, Easton D, Rookus M, Chenevix-Trench G, Antoniou A, Robson M, Schmidt M. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics In Medicine 2021, 23: 1726-1737. PMID: 34113011, PMCID: PMC8460445, DOI: 10.1038/s41436-021-01198-7.Peer-Reviewed Original ResearchConceptsCBC riskHazard ratioFirst BCC-indexPolygenic risk scoresRisk scoreConfidence intervalsContralateral breast cancer riskBreast cancer polygenic risk scoreBRCA2 pathogenic variantsAge 40 yearsBreast cancer riskMultifactorial risk modelEuropean ancestryModifiers of BRCA1/2Breast cancer risk predictionCancer risk predictionConsortium of InvestigatorsRetrospective seriesInvasive BCPathological characteristicsFamily historyEstrogen receptorHeterozygous BRCA1Cancer risk
2020
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Collonge-Rame M, Cook J, Daly M, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding Y, Domchek S, Dorfling C, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans D, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz P, Garber J, Gehrig A, Gerdes A, Gesta P, Giraud S, Glendon G, Godwin A, Goldgar D, González-Neira A, Greene M, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst F, Hooning M, Horvath J, Hu C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kast K, Koudijs M, Kruse T, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud J, Lubiński J, Mai P, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Nielsen F, Nikitina-Zake L, Noguès C, Olah E, Olopade O, Ong K, O’Shaughnessy-Kirwan A, Osorio A, Ott C, Papi L, Park S, Parsons M, Pedersen I, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips K, Prajzendanc K, Pujana M, Radice P, Ramser J, Ramus S, Rantala J, Rennert G, Risch H, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah P, Sharma P, Side L, Singer C, Slavin T, Soucy P, Southey M, Spurdle A, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thull D, Tischkowitz M, Tognazzo S, Toland A, Trainer A, Tung N, van Engelen K, van Rensburg E, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel J, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch F, Schmutzler R, Simard J, Easton D, Chenevix-Trench G, Antoniou A. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics In Medicine 2020, 22: 1653-1666. PMID: 32665703, PMCID: PMC7521995, DOI: 10.1038/s41436-020-0862-x.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerPathogenic variant carriersProspective cohortPolygenic risk scoresVariant carriersCancer riskRisk scoreStrong associationEOC riskHigh-grade serous epithelial ovarian cancerSerous epithelial ovarian cancerER-positive BCBRCA2 pathogenic variantsCarriers of BRCA1Absolute risk differenceEpithelial ovarian cancer riskGeneral population estimatesOvarian cancer riskHR estimatesBRCA2 pathogenic variant carriersBRCA1 carriersBRCA1/2 carriersOvarian cancerBC riskEstrogen receptor
2018
Fallopian tube lesions in women at high risk for ovarian cancer: A multicenter study
Visvanathan K, Shaw P, May BJ, Bahadirli-Talbot A, Kaushiva A, Risch H, Narod S, Wang TL, Parkash V, Vang R, Levine DA, Soslow R, Kurman R, Shih IM. Fallopian tube lesions in women at high risk for ovarian cancer: A multicenter study. Cancer Prevention Research 2018, 11: canprevres.0009.2018. PMID: 30232083, PMCID: PMC6760670, DOI: 10.1158/1940-6207.capr-18-0009.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinCystadenocarcinoma, SerousDisease ProgressionFallopian Tube NeoplasmsFallopian TubesFemaleHumansMedical History TakingMiddle AgedOvarian NeoplasmsOvaryPrecancerous ConditionsPrevalencePrognosisProspective StudiesRetrospective StudiesSalpingo-oophorectomyConceptsSerous tubal intraepithelial lesionsHigh-grade serous ovarian carcinomaSerous tubal intraepithelial carcinomaP53 signatureRisk/protective factorsProtective factorsMultiple lesionsFallopian tubePrognosis of womenHigh-risk womenTubal intraepithelial carcinomaTubal intraepithelial lesionsSerous ovarian carcinomaPutative precursor lesionsYears of ageIntraepithelial lesionsIntraepithelial carcinomaMulticenter studyInvasive cancerOvarian carcinomaDisease progressionPrecursor lesionsEpidemiologic dataCombined prevalenceTubal lesions
2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, Aravantinos G, Arnold N, Arun B, Arver B, Azzollini J, Balmaña J, Banerjee S, Barjhoux L, Barkardottir R, Bean Y, Beckmann M, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini M, Birrer M, Bjorge L, Black A, Blankstein K, Blok M, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury A, Brenton J, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys S, Caldes T, Caligo M, Campbell I, Cannioto R, Carney M, Cescon T, Chan S, Chang-Claude J, Chanock S, Chen X, Chiew Y, Chiquette J, Chung W, Claes K, Conner T, Cook L, Cook J, Cramer D, Cunningham J, D'Aloisio A, Daly M, Damiola F, Damirovna S, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny K, Diez O, Ding Y, Doherty J, Domchek S, Dorfling C, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici A, Ellis S, Elvira M, Eng K, Engel C, Evans D, Fasching P, Ferguson S, Ferrer S, Flanagan J, Fogarty Z, Fortner R, Fostira F, Foulkes W, Fountzilas G, Fridley B, Friebel T, Friedman E, Frost D, Ganz P, Garber J, García M, Garcia-Barberan V, Gehrig A, Gentry-Maharaj A, Gerdes A, Giles G, Glasspool R, Glendon G, Godwin A, Goldgar D, Goranova T, Gore M, Greene M, Gronwald J, Gruber S, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harrington P, Harris H, Hauke J, Hein A, Henderson A, Hildebrandt M, Hillemanns P, Hodgson S, Høgdall C, Høgdall E, Hogervorst F, Holland H, Hooning M, Hosking K, Huang R, Hulick P, Hung J, Hunter D, Huntsman D, Huzarski T, Imyanitov E, Isaacs C, Iversen E, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen U, John E, Johnatty S, Jones M, Kannisto P, Karlan B, Karnezis A, Kast K, Kennedy C, Khusnutdinova E, Kiemeney L, Kiiski J, Kim S, Kjaer S, Köbel M, Kopperud R, Kruse T, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson M, Lazaro C, Le N, Le Marchand L, Lee J, Lele S, Leminen A, Leroux D, Lester J, Lesueur F, Levine D, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu K, Lubinński J, Luccarini C, Lundvall L, Mai P, Mendoza-Fandiño G, Manoukian S, Massuger L, May T, Mazoyer S, McAlpine J, McGuire V, McLaughlin J, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp A, Merritt M, Milne R, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich K, Mulligan A, Musinsky J, Nathanson K, Nedergaard L, Ness R, Neuhausen S, Nevanlinna H, Niederacher D, Nussbaum R, Odunsi K, Olah E, Olopade O, Olsson H, Olswold C, O'Malley D, Ong K, Onland-Moret N, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon T, Paul J, Pearce C, Pedersen I, Peeters P, Peissel B, Peixoto A, Pejovic T, Pelttari L, Permuth J, Peterlongo P, Pezzani L, Pfeiler G, Phillips K, Piedmonte M, Pike M, Piskorz A, Poblete S, Pocza T, Poole E, Poppe B, Porteous M, Prieur F, Prokofyeva D, Pugh E, Pujana M, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez G, Rodríguez-Antona C, Romm J, Rookus M, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Salvesen H, Sandler D, Schoemaker M, Senter L, Setiawan V, Severi G, Sharma P, Shelford T, Siddiqui N, Side L, Sieh W, Singer C, Sobol H, Song H, Southey M, Spurdle A, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell L, Sukiennicki G, Sutphen R, Sutter C, Swerdlow A, Szabo C, Szafron L, Tan Y, Taylor J, Tea M, Teixeira M, Teo S, Terry K, Thompson P, Thomsen L, Thull D, Tihomirova L, Tinker A, Tischkowitz M, Tognazzo S, Toland A, Tone A, Trabert B, Travis R, Trichopoulou A, Tung N, Tworoger S, van Altena A, Van Den Berg D, van der Hout A, van der Luijt R, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg E, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards D, Vergote I, Vierkant R, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, Whittemore A, Wijnen J, Wilkens L, Wolk A, Woo M, Wu X, Wu A, Yang H, Yannoukakos D, Ziogas A, Zorn K, Narod S, Easton D, Amos C, Schildkraut J, Ramus S, Ottini L, Goodman M, Park S, Kelemen L, Risch H, Thomassen M, Offit K, Simard J, Schmutzler R, Hazelett D, Monteiro A, Couch F, Berchuck A, Chenevix-Trench G, Goode E, Sellers T, Gayther S, Antoniou A, Pharoah P. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics 2017, 49: 680-691. PMID: 28346442, PMCID: PMC5612337, DOI: 10.1038/ng.3826.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMeta-Analysis as TopicMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsTelomere-Binding ProteinsConceptsNew susceptibility lociSusceptibility lociGenome-wide association studiesLarge genome-wide association studiesCandidate susceptibility genesRegulatory featuresAssociation studiesSusceptibility genesLociIntegrated analysisEpithelial ovarian cancer histotypesGenesOvarian cancer histotypesOvarian cancerCancer histotypesOBFC1Different histotypesEpithelial ovarian cancerIdentification
2015
BRCA2 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 hazardsIdentification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin A, Schmutzler R, Meindl A, Engel C, Sutter C, Sinilnikova O, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez G, Piedmonte M, O'Malley D, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée J, Rookus M, Oosterwijk J, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov E, Caligo M, Campbell I, Hogervorst F, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana M, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir R, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira M, Pankratz V, Wang X, Lindor N, Szabo C, Kauff N, Vijai J, Aghajanian C, Pfeiler G, Berger A, Singer C, Tea M, Phelan C, Greene M, Mai P, Rennert G, Mulligan A, Tchatchou S, Andrulis I, Glendon G, Toland A, Jensen U, Kruse T, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade O, Nussbaum R, Rebbeck T, Nathanson K, Domchek S, Lu K, Karlan B, Walsh C, Lester J, Hein A, Ekici A, Beckmann M, Fasching P, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty J, Wicklund K, Rossing M, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich K, Odunsi K, Sucheston L, Lele S, Wilkens L, Goodman M, Thompson P, Shvetsov Y, Runnebaum I, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari L, Butzow R, Modugno F, Kelley J, Edwards R, Ness R, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer S, Hogdall E, Hasmad H, Azmi M, Teo S, Woo Y, Fridley B, Goode E, Cunningham J, Vierkant R, Bruinsma F, Giles G, Liang D, Hildebrandt M, Wu X, Levine D, Bisogna M, Berchuck A, Iversen E, Schildkraut J, Concannon P, Weber R, Cramer D, Terry K, Poole E, Tworoger S, Bandera E, Orlow I, Olson S, Krakstad C, Salvesen H, Tangen I, Bjorge L, van Altena A, Aben K, Kiemeney L, Massuger L, Kellar M, Brooks-Wilson A, Kelemen L, Cook L, Le N, Cybulski C, Yang H, Lissowska J, Brinton L, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore A, Rothstein J, McGuire V, Sieh W, Ji B, Zheng W, Shu X, Gao Y, Rosen B, Risch H, McLaughlin J, Narod S, Monteiro A, Chen A, Lin H, Permuth-Wey J, Sellers T, Tsai Y, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee A, Wu A, Pearce C, Coetzee G, Pike M, Dansonka-Mieszkowska A, Timorek A, Rzepecka I, Kupryjanczyk J, Freedman M, Noushmehr H, Easton D, Offit K, Couch F, Gayther S, Pharoah P, Antoniou A, Chenevix-Trench G. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics 2015, 47: 164-171. PMID: 25581431, PMCID: PMC4445140, DOI: 10.1038/ng.3185.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, ReporterGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeterozygoteHumansMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociRiskYoung Adult
2014
Risk Factors for Ovarian Cancers With and Without Microsatellite Instability
Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J. Risk Factors for Ovarian Cancers With and Without Microsatellite Instability. International Journal Of Gynecological Cancer 2014, 24: 664-669. PMID: 24755492, DOI: 10.1097/igc.0000000000000134.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCystadenocarcinoma, SerousDNA, NeoplasmEndometrial NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMutationNeoplasm StagingOvarian NeoplasmsPrognosisRisk FactorsSyndromeUnited StatesConceptsOvarian cancer patientsOral contraceptive useBody mass indexEpithelial ovarian cancerOvarian cancerCancer patientsHistologic subtypeMass indexTubal ligationRisk factorsBRCA2 mutationsContraceptive usePast oral contraceptive usePrimary epithelial ovarian cancerOvarian cancer risk factorsBRCA1 mutationsNational Cancer Institute criteriaProtective factorsSpecific histologic subtypesCancer risk factorsPopulation-based studyMSI-high cancersCases of cancerMSI-high tumorsBRCA2 mutation status
2013
PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer
Akbari MR, Lepage P, Rosen B, McLaughlin J, Risch H, Minden M, Narod SA. PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer. Journal Of The National Cancer Institute 2013, 106: djt323. PMID: 24262437, DOI: 10.1093/jnci/djt323.Peer-Reviewed Original ResearchMeSH KeywordsAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCase-Control StudiesFemaleGenetic Predisposition to DiseaseHeterozygoteHumansIncidenceLeukocytesMiddle AgedMutationOdds RatioOvarian NeoplasmsPhosphoprotein PhosphatasesProportional Hazards ModelsProtein Phosphatase 2CRisk AssessmentRisk FactorsConceptsCase patientsWhite blood cellsOvarian cancerControl subjectsOvarian cancer case patientsFemale first-degree relativesBlood cellsCancer case patientsFirst-degree relativesLifetime riskBreast cancerFamily historyMutation carriersPatientsCancerPast historyTruncating mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomen
2011
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes
Akbari MR, Zhang S, Fan I, Royer R, Li S, Risch H, McLaughlin J, Rosen B, Sun P, Narod SA. Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. Journal Of Medical Genetics 2011, 48: 783. PMID: 21965345, DOI: 10.1136/jmedgenet-2011-100305.Peer-Reviewed Original ResearchConceptsFirst-degree relativesFemale first-degree relativesRelatives of patientsOvarian cancerCumulative riskPathogenic mutationsUnclassified variantsRisk of cancerHistorical cohortBRCA2 mutationsClinical impactHigh riskBRCA2 genesCancerUnknown significancePatientsMissense variantsFunctional effectsWomenRiskBRCA1PenetranceMutationsRelativesCohort
2007
Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadirian P, Lynch H, Karlan B, Fishman D, Rosen B, Neuhausen SL, Offit K, Kauff N, Domchek S, Tung N, Friedman E, Foulkes W, Sun P, Narod SA, Group O. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. The Lancet Oncology 2007, 8: 26-34. PMID: 17196508, DOI: 10.1016/s1470-2045(06)70983-4.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerCarriers of BRCA1Case-control studyOral contraceptivesOvarian cancerBRCA2 mutationsTubal ligationRisk factorsBRCA1 mutationsReproductive risk factorsPopulation-based studyOvarian cancer riskPossible adverse effectsYear of birthInternational registryMenstrual cycleOdds ratioBreast cancerMutation carriersReproductive historyContraceptivesBRCA2 genesCancerAdverse effectsWomen
2001
Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer
Risch H, McLaughlin J, Cole D, Rosen B, Bradley L, Kwan E, Jack E, Vesprini D, Kuperstein G, Abrahamson J, Fan I, Wong B, Narod S. Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer. American Journal Of Human Genetics 2001, 68: 700-710. PMID: 11179017, PMCID: PMC1274482, DOI: 10.1086/318787.Peer-Reviewed Original ResearchConceptsOvarian cancer cluster regionFirst-degree relativesOvarian cancerBRCA2 mutationsProtein truncation testBRCA1 mutationsInvasive cancerBreast cancerAffected first-degree relativeRelatives of noncarriersRisk of ovarianPopulation-based seriesAge 80 yearsBreast cancer riskHereditary ovarian cancerBreast cancer penetranceEarly-onset diseaseLate-onset cancerLeukemia/lymphomaRelatives of casesMutation locationExon 11Borderline histologyIncident casesColorectal cancer
2000
BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, Schwartz P, Tung N, Warner E, Rosen B, Friedman J, Brunet J, Narod S. BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer. American Journal Of Human Genetics 2000, 66: 1259-1272. PMID: 10739756, PMCID: PMC1288193, DOI: 10.1086/302853.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleFounder EffectGene FrequencyGenes, BRCA1Genetic Predisposition to DiseaseHumansIncidenceIsraelJewsMaleMiddle AgedMutationNeoplasm ProteinsNeoplasm StagingNorth AmericaOvarian NeoplasmsPedigreeTranscription FactorsConceptsFemale first-degree relativesAge 75 yearsOvarian cancerFirst-degree relativesBreast cancerAshkenazi Jewish womenHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeObserved excess riskFounder mutationFamilial cancer riskDetailed family historyBRCA2 mutation analysisCumulative incidenceExcess riskHealthy controlsRelative riskFamily historyMedical CenterCancer riskCancer syndromesAshkenazi Jewish populationControl populationProtein truncation testBRCA2 genes
1999
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphismAccumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations.
Zweemer R, Shaw P, Verheijen R, Ryan A, Berchuck A, Ponder B, Risch H, McLaughlin J, Narod S, Menko F, Kenemans P, Jacobs I. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. Journal Of Clinical Pathology 1999, 52: 372. PMID: 10560359, PMCID: PMC1023075, DOI: 10.1136/jcp.52.5.372.Peer-Reviewed Original ResearchConceptsOvarian cancer casesBRCA2 germline mutationsHereditary ovarian cancerOvarian cancerCancer casesP53 accumulationGermline mutationsSomatic genetic eventsInvasive ovarian cancer casesBRCA2 germline mutation carriersOvarian cancer patientsP53 proteinGermline mutation carriersGenetic eventsRole of p53Cancer patientsAntigen retrieval techniqueBRCA mutationsBRCA2 mutationsStudy groupMutation carriersP53 alterationsP53 immunohistochemistryGermline BRCA1Positive cases
1998
Oral Contraceptives and the Risk of Hereditary Ovarian Cancer
Narod S, Risch H, Moslehi R, Dørum A, Neuhausen S, Olsson H, Provencher D, Radice P, Evans G, Bishop S, Brunet J, Ponder B, Klijn J. Oral Contraceptives and the Risk of Hereditary Ovarian Cancer. New England Journal Of Medicine 1998, 339: 424-428. PMID: 9700175, DOI: 10.1056/nejm199808133390702.Peer-Reviewed Original ResearchConceptsOral contraceptive useHereditary ovarian cancerOvarian cancerOral contraceptivesControl womenBRCA2 genesPathogenic mutationsCase-control studyHigh lifetime riskDuration of useYear of birthLifetime riskOdds ratioBRCA2 mutationsLifetime historyHereditary formsCancerBRCA1 mutationsContraceptivesWomenPatientsRiskMore yearsPast useBRCA1