全球生殖系测试:不同实践环境中的挑战。

Q1 Medicine
Sana Al-Sukhun, Yazan Masannat, Talia Wegman-Ostrosky, Shailesh V Shrikhande, Achille Manirakiza, Temidayo Fadelu, Timothy R Rebbeck
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引用次数: 0

摘要

癌症是一个日益加重的全球公共卫生负担。最近,更多的强调遗传在癌症中的重要性,主要是由生殖系遗传变异导向治疗的引入所驱动的。的确,40%的癌症风险归因于可改变的环境和生活方式因素;尽管如此,16%的癌症可能是遗传性的,占全球1810万确诊病例的290例。其中至少三分之二将在资源有限的国家确诊,即低收入和中等收入国家,特别是在近亲结婚率高且确诊时年龄过早的国家。两者都是遗传性癌症的标志。这为预防、早期发现和最近的治疗干预创造了新的机会。然而,在全球范围内,在临床癌症患者中进行生殖系检测的过程中,这一机会受到了许多障碍的挑战。全球合作和专业知识交流对于弥合知识差距和促进实际实施至关重要。根据当地资源调整现有准则和确定优先次序,对于解决每个社会的独特需求和克服独特障碍至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Germline Testing Around the Globe: Challenges in Different Practice Settings.

Cancer is an increasing global public health burden. Lately, more emphasis has emerged on the importance of heredity in cancer, mostly driven by the introduction of germline genetic variants-directed therapeutics. It is true that 40% of cancer risk is attributed to modifiable environmental and lifestyle factors; still, 16% of cancers could be heritable, accounting for 2.9 of the 18.1 million cases diagnosed worldwide. At least two third of those will be diagnosed in countries with limited resources-low- and middle-income countries, especially where high rates of consanguine marriage and early age at diagnosis are already prevalent. Both are hallmarks of hereditary cancer. This creates a new opportunity for prevention, early detection, and recently therapeutic intervention. However, this opportunity is challenged by many obstacles along the path to addressing germline testing in patients with cancer in the clinic worldwide. Global collaboration and expertise exchange are important to bridge the knowledge gap and facilitate practical implementation. Adapting existing guidelines and prioritization according to local resources are essential to address the unique needs and overcome the unique barriers of each society.

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期刊介绍: The Ed Book is a National Library of Medicine–indexed collection of articles written by ASCO Annual Meeting faculty and invited leaders in oncology. Ed Book was launched in 1985 to highlight standards of care and inspire future therapeutic possibilities in oncology. Published annually, each volume highlights the most compelling research and developments across the multidisciplinary fields of oncology and serves as an enduring scholarly resource for all members of the cancer care team long after the Meeting concludes. These articles address issues in the following areas, among others: Immuno-oncology, Surgical, radiation, and medical oncology, Clinical informatics and quality of care, Global health, Survivorship.
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