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患有乳腺癌的年轻女性:精准肿瘤学的当前作用

Young Women with Breast Cancer: The Current Role of Precision Oncology.

作者信息

Srikanthan Amirrtha, Awan Arif Ali, McGee Sharon, Rushton Moira

机构信息

Division of Medical Oncology, The Ottawa Hospital, 501 Smyth Road, Ottawa, ON K1H 8L6, Canada.

Department of Medicine, Faculty of Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON K1H 8M5, Canada.

出版信息

J Pers Med. 2023 Nov 20;13(11):1620. doi: 10.3390/jpm13111620.

Abstract

Young adults aged 40 years and younger with breast cancer represent less than 5% of all breast cancer cases, yet it is the leading cause of death among young women with cancer worldwide. Breast cancer that develops at a young age is more aggressive and has biological features that carry an increased risk of relapse and death. Young adults are more likely to have a genetic predisposition and key biomarkers, including endocrine receptors, the HER2 receptor, and proliferation biomarkers, that appear different compared to older adults. Despite being more aggressive, management strategies are largely the same irrespective of age. Given the higher rates of genetic predisposition, fast access to genetic counselling and testing is a necessity. In this review, the biological differences in young adult breast cancer and the current role precision medicine holds in the treatment of young adults with breast cancer are explored. Given the relatively high risk of relapse, developing novel genomic tools to refine the treatment options beyond the current standard is critical. Existing predictive genomic tests require careful interpretation with consideration of the patient's clinical and pathological features in the young patient cohort. Careful evaluation is also required when considering extended endocrine therapy options. Improved characterization of mutations occurring in tumors using next-generation sequencing could identify important driver mutations that arise in young women. Applying the advances of precision medicine equitably to patients in resource-rich and low- and middle-income countries will be critical to impacting the survival of young adults with breast cancer worldwide.

摘要

40岁及以下的年轻成年乳腺癌患者占所有乳腺癌病例的比例不到5%,但它却是全球年轻女性癌症患者的主要死因。年轻时罹患的乳腺癌更具侵袭性,且具有增加复发和死亡风险的生物学特征。年轻成年人更有可能具有遗传易感性,其关键生物标志物,包括内分泌受体、HER2受体和增殖生物标志物,与年长者相比有所不同。尽管侵袭性更强,但无论年龄大小,治疗策略在很大程度上是相同的。鉴于遗传易感性较高,快速获得遗传咨询和检测是必要的。在这篇综述中,探讨了年轻成年乳腺癌的生物学差异以及精准医学在年轻成年乳腺癌治疗中的当前作用。鉴于复发风险相对较高,开发新的基因组工具以优化当前标准之外的治疗选择至关重要。现有的预测性基因组检测需要结合年轻患者队列中患者的临床和病理特征进行仔细解读。在考虑延长内分泌治疗方案时也需要仔细评估。使用下一代测序技术更好地表征肿瘤中发生的突变,可能会识别出年轻女性中出现的重要驱动突变。将精准医学的进展公平地应用于资源丰富以及低收入和中等收入国家的患者,对于影响全球年轻成年乳腺癌患者的生存率至关重要。

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