Lee Soo Chin, Park Yeon Hee, Singer Christian F, Balmaña Judith, Dent Rebecca Alexandra, Tan Veronique Kiak-Mien, Mulansari Nadia Ayu, Yusof Mastura Md, Que Frances Victoria F, Lu Yen-Shen, Parinyanitikul Napa, Pham Cam Phuong, Taib Nur Aishah, Kong Sun-Young, Antill Yoland, Kim Hee Jeong
Department of Haematology-Oncology, National University Cancer Institute, Singapore, Singapore.
Division of Haematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Front Oncol. 2025 Jun 23;15:1507836. doi: 10.3389/fonc.2025.1507836. eCollection 2025.
In the Asia-Pacific region, there is increasing contention on the practical challenges involved in managing human epidermal growth factor receptor 2 (HER2)-negative early breast cancer (eBC). This modified Delphi consensus explores gaps in genetic counselling (GC) and genetic testing (GT), and clinical risk assessment for -negative eBC.
An expert panel of 16 Asia-Pacific medical oncologists, geneticists, and breast cancer surgeons arrived at 33 statements. The level of statement consensus was considered high at ≥75%. A survey of 134 healthcare practitioners (HCPs) (breast cancer surgeons, geneticists, oncologists, molecular biologists/pathologists) explored the real-world practices in this region.
A consensus was reached for 88% of the statements (29/33) and aligned with international guidelines. Experts reached 100% consensus on offering pretest GC, obtaining consent before GT, considering first diagnosis of breast cancer (BC) as ideal time for GT, offering reflex testing for patients with likely/pathogenic germline variant, and considering patients with germline mutant early triple-negative breast cancer (TNBC) patients who do not achieve pathological complete response after neoadjuvant treatment to be at high risk of recurrence. Over 90% of experts supported germline GT for for TNBC patients irrespective of age at diagnosis or family history and prioritised tumour size and nodal status as prognostic factors for cancer recurrence. Experts reached 80%-90% consensus for using genetic risk assessment tools in low/under-resourced healthcare systems and considering patients with likely/pathogenic variants in for risk reduction surgery. Significant gaps existed between real-world practices and recommendations, particularly in offering pretest GC to patients with suspected hereditary BC and to blood relatives of patients with germline pathogenic variant BC, ideal time for GT, considering GT for early TNBC patients irrespective of age, offering post-test GC for positive results, utilising risk assessment tools, and streamlining GC through non-geneticist HCPs.
GT and pretest GC should be mainstreamed at the first diagnosis of BC. Risk assessment for disease recurrence should be performed at diagnosis and post-surgery for -negative eBC patients. These recommendations would help standardise GC and improve GT access for clinical decisions.
在亚太地区，关于管理人类表皮生长因子受体2（HER2）阴性早期乳腺癌（eBC）所涉及的实际挑战的争论日益激烈。这项经过改进的德尔菲共识探讨了遗传咨询（GC）和基因检测（GT）以及HER2阴性eBC的临床风险评估方面的差距。
一个由16名亚太地区医学肿瘤学家、遗传学家和乳腺癌外科医生组成的专家小组达成了33项声明。声明的共识水平在≥75%时被认为较高。对134名医疗保健从业者（HCPs）（乳腺癌外科医生、遗传学家、肿瘤学家、分子生物学家/病理学家）进行的一项调查探讨了该地区的实际做法。
88%的声明（29/33）达成了共识，且与国际指南一致。专家们在提供检测前遗传咨询、基因检测前获得同意、将乳腺癌（BC）的首次诊断视为基因检测的理想时机、为可能/致病性种系变异的患者提供反射检测以及将新辅助治疗后未达到病理完全缓解的种系突变早期三阴性乳腺癌（TNBC）患者视为复发高风险患者等方面达成了100%的共识。超过90%的专家支持无论诊断时年龄或家族史如何，都对TNBC患者进行种系基因检测，并将肿瘤大小和淋巴结状态作为癌症复发的预后因素。专家们在资源匮乏的医疗系统中使用遗传风险评估工具以及考虑对可能/致病性变异的患者进行降低风险手术方面达成了80%-90%的共识。实际做法与建议之间存在显著差距，特别是在为疑似遗传性BC患者及其种系致病性变异BC患者的血亲提供检测前遗传咨询、基因检测的理想时机、无论年龄如何考虑对早期TNBC患者进行基因检测、为阳性结果提供检测后遗传咨询、使用风险评估工具以及通过非遗传学家医疗保健从业者简化遗传咨询等方面。
基因检测和检测前遗传咨询应在乳腺癌首次诊断时成为主流。对于HER2阴性eBC患者，应在诊断时和手术后进行疾病复发风险评估。这些建议将有助于规范遗传咨询并改善基因检测的可及性，以用于临床决策。
