为了确定针对新诊断的乳腺癌患者进行普遍遗传测试的可行性，估计致病基因变异的发生率和对患者管理的影响，以及评估普通测试的患者和临床医生接受度。针对墨尔本帕克维尔乳腺服务的侵袭性或高级别原位乳腺癌和未知生殖系状况的女性进行前瞻性研究。女性参加了新诊断乳腺癌遗传和肿瘤基因组学突变评估（MAGIC）研究的试点（2020年6月12日至2021年3月22日）和扩展阶段（2021年10月17日至2022年11月8日）。通过DNA测序进行生殖系测试，过滤了19个可分类为可操作的遗传性乳腺和卵巢癌基因；仅报告致病变异。遗传测试之前和之后的调查评估了试点阶段参与者对遗传测试的看法，以及心理困扰和癌症特异性担忧。另一项调查评估了临床医生对普遍测试的看法。在474名扩展研究阶段参与者中，发现31名携带致病性生殖系变异（6.5％），包括429名患有侵袭性乳腺癌的女性中的28名（6.5％）。其中18人不符合当前遗传测试资格准则（根据CanRisk或曼彻斯特分数≥ 15，携带致病性生殖系致病变异的概率≥ 10％）。在鉴定到致病变异后，31名妇女中的24名的临床管理发生了变化。包括在研究之外接受遗传测试的额外68名女性，共有542名女性携带致病变异（8.1％）。普遍测试的接受度在患者（103人中的90人，87％）和临床医生中都很高；没有决策后悔或对心理困扰或癌症特异性担忧产生不良影响的报道。乳腺癌诊断后进行普遍遗传测试可以检测到临床意义重大的生殖系致病变异，否则可能因测试指南而遗漏。常规测试和报告致病变异对患者和临床医生都是可行且可接受的。© 2023 The Authors. Medical Journal of Australia published by John Wiley & Sons Australia, Ltd on behalf of AMPCo Pty Ltd.

To determine the feasibility of universal genetic testing of women with newly diagnosed breast cancer, to estimate the incidence of pathogenic gene variants and their impact on patient management, and to evaluate patient and clinician acceptance of universal testing.Prospective study of women with invasive or high grade in situ breast cancer and unknown germline status discussed at the Parkville Breast Service (Melbourne) multidisciplinary team meeting. Women were recruited to the pilot (12 June 2020 - 22 March 2021) and expansion phases (17 October 2021 - 8 November 2022) of the Mutational Assessment of newly diagnosed breast cancer using Germline and tumour genomICs (MAGIC) study.Germline testing by DNA sequencing, filtered for nineteen hereditary breast and ovarian cancer genes that could be classified as actionable; only pathogenic variants were reported. Surveys before and after genetic testing assessed pilot phase participants' perceptions of genetic testing, and psychological distress and cancer-specific worry. A separate survey assessed clinicians' views on universal testing.Pathogenic germline variants were identified in 31 of 474 expanded study phase participants (6.5%), including 28 of 429 women with invasive breast cancer (6.5%). Eighteen of the 31 did not meet current genetic testing eligibility guidelines (probability of a germline pathogenic variant ≥ 10%, based on CanRisk, or Manchester score ≥ 15). Clinical management was changed for 24 of 31 women after identification of a pathogenic variant. Including 68 further women who underwent genetic testing outside the study, 44 of 542 women carried pathogenic variants (8.1%). Acceptance of universal testing was high among both patients (90 of 103, 87%) and clinicians; no decision regret or adverse impact on psychological distress or cancer-specific worry were reported.Universal genetic testing following the diagnosis of breast cancer detects clinically significant germline pathogenic variants that might otherwise be missed because of testing guidelines. Routine testing and reporting of pathogenic variants is feasible and acceptable for both patients and clinicians.© 2023 The Authors. Medical Journal of Australia published by John Wiley & Sons Australia, Ltd on behalf of AMPCo Pty Ltd.