乳腺癌易感基因突变女性治疗后结局

　　乳腺癌易感基因BRCA1和BRCA2是重要的抑癌基因，如果发生致病突变，容易发生乳腺癌、卵巢癌等恶性肿瘤。不过，对于BRCA2突变乳腺癌患者，各种治疗方法对生存结局的影响尚不明确。

　　年2月18日，英国癌症研究基金会《英国癌症杂志》在线发表英国、澳大利亚、意大利、波兰、加拿大、美国、挪威、奥地利的研究报告，探讨了双侧卵巢切除术和其他治疗方法对种系BRCA2突变患者乳腺癌相关生存结局的影响。

　　该研究对5个地区（北美、波兰、澳大利亚、英国、意大利）前瞻或回顾研究数据进行分析，确定例早期乳腺癌种系BRCA2突变女性。从诊断乳腺癌到乳腺癌所致死亡，对这些女性进行中位7.2年随访。根据患者报告和医疗记录，获得肿瘤特征和癌症治疗方法。通过多因素比例风险回归模型对其他治疗方法和预后特征进行校正后，确定生存结局预测因素。

　　结果，10年乳腺癌相关生存比例：

雌激素受体阳性与阴性相比：78.9%比82.3%（校正后风险比：1.23，95%置信区间：0.62～2.45，P=0.55）

双侧卵巢切除与未切除相比：89.1%比59.0%（校正后风险比：0.45，95%置信区间：0.28～0.72，P=0.）

化疗与未化疗相比：12.9%比11.5%（校正后风险比：0.83，95%置信区间：0.65～1.53，P=0.56）

　　因此，该多中心大样本回顾研究结果表明，对于种系BRCA2突变的乳腺癌女性，雌激素受体阳性与阴性相比、化疗与未化疗相比，生存结局相似。双侧卵巢切除与未切除相比，乳腺癌所致死亡风险显著较低，制定治疗计划时应予考虑，故有必要进一步开展多中心大样本前瞻研究进行验证。

BrJCancer.Feb18.Onlineaheadofprint.

SurvivalfrombreastcancerinwomenwithaBRCA2mutationbytreatment.

D.GarethEvans,Kelly-AnnePhillips,RogerL.Milne,RobertFruscio,CezaryCybulski,JacekGronwald,JanLubinski,TomaszHuzarski,ZerinHyder,ClaireForde,KellyMetcalfe,LeighaSenter,JeffreyWeitzel,NadineTung,DanaZakalik,MariaEkholm,PingSun,StevenA.Narod,MariaBlasińska-Morawiec,MariaChosia,KazimierzDrosik,SylwiaGozdecka-Grodecka,StanislawGozdz,EwaGrzybowska,ArkadiuszJeziorski,AldonaKarczewska,RadzislawKordek,AgnieszkaSynowiec,BeataKozak-Klonowska,KatarzynaLamperska,DariuszLange,AndrzejMackiewicz,JerzyWladyslawMitus,StanislasNiepsuj,OlegOszurek,KarolGugala,ZbigniewMorawiec,TomaszMierzwa,MichalPosmyk,JanuszRys,CezarySzczylik,MichalUciński,KrzysztofUrbański,BernardWasko,PiotrWandzel,MichaelFriedlander,SueAnneMcLachlan,StephanieNesci,SandraPicken,SarahOConnor,LucyStanhope,AndreaEisen,KevinSweet,RaymondKim,WilliamFoulkes,PalMoller,SusanNeuhausen,CareyCullinane,CharisEng,PeterAinsworth,FergusCouch,ChristianSinger,BethKarlan,WendyMcKinnon,MarieWood;kConFabInvestigators,PolishHereditaryBreastCancerConsortium,HereditaryBreastCancerClinicalStudyGroup.

TheUniversityofManchester,Manchester,UK;ManchesterAcademicHealthScienceCentre,TheChristie,Manchester,UK;UniversityofMelbourne,Melbourne,Australia;PeterMacCallumCancerCentre,Melbourne,Australia;MonashUniversity,Clayton,Australia;CancerCouncilVictoria,Melbourne,Australia;PrinceofWalesHospital,Randwick,Australia;StVincentsHospital,Fitzroy,Australia;UniversityofMilan-Bicocca,Milan,Italy;PomeranianMedicalUniversity,Szczecin,Poland;CopernicusMemorialHospital,Lodz,Poland;RegionalCancerCenter,Opole,Poland;PoznanUniversityofMedicalSciences,Poznań,Poland;HolycrossCancerCentre,Kielce,Poland;MariaSklodowska-CurieInstitute,Gliwice,Poland;MedicalUniversityofLodz,Lodz,Poland;UniversitySchoolofMedicalSciencesatGreatPolandCancerCenter,Poznań,Poland;MilitaryInstituteofMedicine,Warsaw,Poland;GreaterPolandCancerCentre,Poznan,Poland;MariaSklodowska-CurieInstitute-OncologyCenter,Gliwice,Poland;MariaSklodowska-CurieMemorialCancerCentreandInstituteofOncology,Krakow,Poland;MariaSklodowska-CurieMemorialInstituteofOncology,Krakow,Poland;RegionalOncologyHospital,Olsztyn,Poland;RegionalOncologyHospital,Bydgoszcz,Poland;RegionalOncologyCenter,Bialystok,Poland;MariaSklodowska-CurieMemorialCancerCenterandInstituteofOncology,Krakow,Poland;MilitaryHospital,Warsaw,Poland;InstituteofOncology,Krakow,Poland;RegionalHospital,Rzeszów,Poland;RegionalHospitalBielsko-Biala,Bielsko-Biala,Poland;WomensCollegeHospital,Toronto,ON,Canada;SunnybrookHealthSciencesCentre,Toronto,Canada;UniversityHealthNetwork,Toronto,Canada;McGillUniversity,Montreal,Canada;LondonHealthSciencesCentre,London,Canada;OhioStateUniversity,Columbus,Ohio,USA;OhioStateUniversity,Columbus,OH,USA;CityofHope,Duarte,CA,USA;BethIsraelDeaconessMedicalCenter,Boston,MA,USA;BeaumontHealth,RoyalOak,MI,USA;ClevelandClinic,Cleveland,Ohio,USA;MayoClinic,Rochester,MN,USA;UniversityofCalifornia,LosAngeles,CA,USA;UniversityofVermont,Burlington,VT,USA;NorwegianRadiumHospital,Oslo,Norway;MedicalUniversityofVienna,Vienna,Austria.

BACKGROUND:Theimpactofvariousbreast-cancertreatmentsonpatientswithaBRCA2mutationhasnotbeenstudied.Wesoughttoestimatetheimpactofbilateraloophorectomyandothertreatmentsonbreastcancer-specificsurvivalamongpatientswithagermlineBRCA2mutation.

METHODS:WeidentifiedwomenwithstageI-IIIbreastcancerandaBRCA2mutationby