2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, Antoniou A, Goldgar D, Olopade O, Chenevix-Trench G, Rebbeck T, Huo D. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal Of Cancer 2019, 121: 180-192. PMID: 31213659, PMCID: PMC6738050, DOI: 10.1038/s41416-019-0492-8.Peer-Reviewed Original ResearchConceptsBody mass indexOvarian cancer riskBRCA1/2 mutation carriersBRCA2 mutation carriersCancer riskMutation carriersMass indexGeneral populationHigher ovarian cancer riskHigher body mass indexGenetic scoreOvarian cancer casesMendelian randomisation studyMendelian randomisation approachConsortium of InvestigatorsPostmenopausal womenPremenopausal womenMenopausal statusCancer casesCox modelConclusionOur observationsRandomisation approachM2 increaseRiskPositive association
2017
Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?
McGee J, Giannakeas V, Karlan B, Lubinski J, Gronwald J, Rosen B, McLaughlin J, Risch H, Sun P, Foulkes WD, Neuhausen SL, Kotsopoulos J, Narod SA, Group O. Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted? Gynecologic Oncology 2017, 145: 346-351. PMID: 28314588, DOI: 10.1016/j.ygyno.2017.02.032.Peer-Reviewed Original ResearchConceptsBRCA mutation carriersOvarian cancer patientsOvarian cancerBreast cancerMutation carriersPreventive mastectomyCancer patientsActuarial riskStage III/IV ovarian cancerUnaffected BRCA mutation carriersEarly-stage ovarian cancerBreast cancer incidenceStage ovarian cancerMutation-carrying patientsProportional hazards modelCause of mortalityImpact of mastectomyOvarian cancer diagnosisProbability of deathBreast surveillanceCause mortalityAnnual mortality rateClinical benefitBreast surgeryInternational registry
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 hazardsTen-year survival after epithelial ovarian cancer is not associated with BRCA mutation status
Kotsopoulos J, Rosen B, Fan I, Moody J, McLaughlin JR, Risch H, May T, Sun P, Narod SA. Ten-year survival after epithelial ovarian cancer is not associated with BRCA mutation status. Gynecologic Oncology 2015, 140: 42-47. PMID: 26556769, DOI: 10.1016/j.ygyno.2015.11.009.Peer-Reviewed Original ResearchConceptsBRCA mutation statusLong-term survivalEpithelial ovarian cancerResidual diseaseOvarian cancerMutation carriersMutation statusOntario Cancer RegistryTreatment-related factorsTen-year survivalBRCA2 mutation carriersBRCA1 mutation carriersMajority of womenInitial survival advantageActuarial survivalMortality benefitSerous cancerCancer RegistryBRCA carriersBRCA mutationsMedical recordsBRCA2 mutationsSurvival statusSurvival advantageClinical informationNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Ovarian Cancer Association Consortium B, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Group A, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Register B, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dos Santos Silva I, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, Collaborators G, Network G, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, Hildebrandt M, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, Investigators K, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, L. P, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AMW, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PDP, Rookus MA, Hooning MJ, Goode EL. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology 2015, 141: 386-401. PMID: 25940428, PMCID: PMC4630206, DOI: 10.1016/j.ygyno.2015.04.034.Peer-Reviewed Original ResearchConceptsBreast cancer riskBreast cancerClinical outcomesOvarian cancerCancer riskClinical utilityBreast Cancer Association ConsortiumOvarian Cancer Association ConsortiumClinical genetic testingOverall survivalMutation carriersSurvival timeSuggested associationsCancerGenetic testingParticular subgroupRs61764370RiskAssociationOutcomesPrior studiesPatientsWomen
2013
Preventing ovarian cancer through genetic testing: a population‐based study
Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin JR, Lerner‐Ellis J, Narod SA. Preventing ovarian cancer through genetic testing: a population‐based study. Clinical Genetics 2013, 86: 496-499. PMID: 24199689, DOI: 10.1111/cge.12313.Peer-Reviewed Original ResearchConceptsOvarian cancerGenetic testingGenetic testing criteriaInvasive ovarian cancerPopulation-based studyOvarian cancer patientsBRCA2 gene mutationsGenetic test resultsDevelopment of cancerCancer patientsBRCA2 mutationsMutation carriersUnselected casesEligibility criteriaCancerPatientsGene mutationsProvince of OntarioWomenPotential utilityPopulation levelBRCA1MutationsPPM1D 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 mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomenLong-Term Ovarian Cancer Survival Associated With Mutation in BRCA1 or BRCA2
McLaughlin JR, Rosen B, Moody J, Pal T, Fan I, Shaw PA, Risch HA, Sellers TA, Sun P, Narod SA. Long-Term Ovarian Cancer Survival Associated With Mutation in BRCA1 or BRCA2. Journal Of The National Cancer Institute 2013, 105: 141-148. PMID: 23257159, PMCID: PMC3611851, DOI: 10.1093/jnci/djs494.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerOvarian cancerBRCA2 mutationsLong-term survival benefitOvarian cancer-specific survivalCancer-specific survivalOvarian cancer survivalSerous ovarian cancerShort-term survival advantageBRCA1 mutation carriersLong-term survivalHazard ratioSurvival benefitBetter prognosisUnselected womenBRCA2 carriersCancer survivalMutation carriersSurvival advantageSurvival analysisCancerDiagnosisTime pointsWomenSurvival
2012
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer
Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British Journal Of Cancer 2012, 107: 1783-1790. PMID: 23047549, PMCID: PMC3493867, DOI: 10.1038/bjc.2012.452.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCarcinoma, Ovarian EpithelialColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA-Binding ProteinsFemaleHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasms, Glandular and EpithelialNuclear ProteinsOvarian NeoplasmsConceptsHereditary non-polyposis colorectal cancerPopulation-based studyEpithelial ovarian cancerOvarian cancerNon-polyposis colorectal cancerNon-serous histologyPathogenic mutation carriersMismatch repair gene mutationsGene mutationsOvarian cancer patientsHNPCC genesPopulation-based sampleRepair gene mutationsMismatch repair genesFamily history informationPathogenic missense variantsColorectal cancerMean ageCancer patientsMSH6 mutationsTreatment decisionsMutation carriersFrequency of mutationsPathogenic variantsCancer
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
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives
Runnebaum I, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin A, Risch H, Garber J, Lerman C, Olopade O, Foulkes W, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dubé M, Kieback D, Narod S. Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. Pharmacogenetics And Genomics 2001, 11: 635-638. PMID: 11668223, DOI: 10.1097/00008571-200110000-00010.Peer-Reviewed Original ResearchConceptsPROGINS alleleOvarian cancerOral contraceptivesBRCA2 mutationsCarriers of BRCA1Oral contraceptive useOvarian cancer riskHereditary ovarian cancerBRCA2 mutation carriersOral contraception useForms of cancerYear of birthPrior diagnosisBRCA2 carriersProgesterone receptorBreast cancerMutation carriersContraceptive useCancer riskContraception useHereditary breastDisease statusPast exposureCancerBRCA1 mutations
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