Germline Testing Around the Globe: Challenges in Different Practice Settings.
Germline Testing Around the Globe: Challenges in Different Practice Settings.
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DOI：
10.1200/edbk_390522
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发表时间：
2023-05-01
期刊：
影响因子：
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通讯作者：
Rebbeck, Timothy R
中科院分区：
文献类型：
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作者：
Al-Sukhun, Sana;Masannat, Yazan;Rebbeck, Timothy R
癌症是日益严重的全球公共卫生负担。最近，遗传在癌症中的重要性得到了更多的重视，主要是由于引入了生殖系遗传变异导向疗法。诚然，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1810万确诊病例中的2.9。其中至少三分之二将在资源有限的国家-低收入和中等收入国家-被诊断出来，特别是在近亲结婚率高和诊断年龄早的国家已经很普遍。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，这一机会受到了许多障碍的挑战，沿着道路，以解决生殖细胞检测癌症患者在世界各地的诊所。全球协作和专门知识交流对于弥合知识差距和促进实际执行十分重要。根据当地资源调整现有准则和确定优先次序，对于满足每个社会的独特需求和克服其独特障碍至关重要。
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.