METHODS: The polygenic risk modification trial is an Australian multicentre prospective randomised controlled trial of integrated risk assessment including personal and family risk factors with inclusion of breast and ovarian PRS vs standard care. The study will enrol women, unaffected by cancer, undergoing predictive testing at a familial cancer clinic for a pathogenic variant in a known breast cancer (BC) or ovarian cancer (OC) predisposition gene (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51C, RAD51D). Array-based genotyping will be used to generate breast cancer (313 SNP) and ovarian cancer (36 SNP) PRS. A suite of materials has been developed for the trial including an online portal for patient consent and questionnaires, and a clinician education programme to train healthcare providers in the use of integrated risk assessment. Long-term follow-up will evaluate differences in the assessed risk and management advice, patient risk management intentions and adherence, patient-reported experience and outcomes, and the health service implications of personalised risk assessment.
BACKGROUND: This study has been approved by the Human Research Ethics Committee of Peter MacCallum Cancer Centre and at all participating centres. Study findings will be disseminated via peer-reviewed publications and conference presentations, and directly to participants.
BACKGROUND: ACTRN12621000009819.
方法:多基因风险调整试验是一项澳大利亚多中心前瞻性随机对照试验,综合风险评估包括个人和家庭风险因素,包括乳腺和卵巢PRS与标准治疗。这项研究将招募女性,不受癌症的影响,在家族性癌症诊所进行预测测试,以确定已知乳腺癌(BC)或卵巢癌(OC)易感基因(BRCA1,BRCA2,PALB2,CHEK2,ATM,RAD51C,RAD51D)。基于阵列的基因分型将用于产生乳腺癌(313个SNP)和卵巢癌(36个SNP)PRS。已经为该试验开发了一套材料,包括用于患者同意和问卷调查的在线门户,和临床医生教育计划,以培训医疗保健提供者使用综合风险评估。长期跟进将评估风险和管理建议的差异,患者风险管理意图和依从性,患者报告的经验和结果,以及个性化风险评估对卫生服务的影响。
背景:本研究已获得PeterMacCallum癌症中心人类研究伦理委员会和所有参与中心的批准。研究结果将通过同行评审的出版物和会议演示文稿传播,直接对参与者。
背景:ACTRN12621000009819。