比较观察:伊朗、新加坡和南非的遗传性结直肠癌登记。

IF 2 4区 医学 Q3 GENETICS & HEREDITY
Ladan Goshayeshi, Ernest Wencong Eu, Raj Ramesar, Paul Goldberg, Yu Bin Tan, Ursula Algar, Rutharra Ghayadthri Manisekaran, Shao-Tzu Li, Rebecca Caeser, Adam Boutall, Lena Goshayeshi, Kevin J Monahan, Joanne Ngeow
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引用次数: 0

摘要

本研究比较了三个遗传性结直肠癌(CRC)登记处——伊朗遗传性结直肠癌登记处(IHCCR)、新加坡息肉病登记处(SPR)和开普敦大学家族性结直肠癌登记处——以阐明不同医疗保健系统中识别、管理和研究的不同方法。每个登记处在强调患者多样性的同时,采用了反映现有资源和流行病学背景的独特策略。利用WES的IHCCR显示了相当大的遗传异质性,包括新的突变。SPR是一项全国性的服务,专注于FAP和其他息肉病综合征的结构化监测和管理,突出了文化保守主义和公众意识有限的挑战。UCT登记,最初集中于Lynch综合征,扩大到包括其他遗传性CRC综合征,揭示了这些条件在南非人口中的高患病率。所有三个登记处都遇到了与获得基因检测和早期诊断有关的挑战。登记处的综合经验强调,迫切需要将基因检测、加强监测和以家庭为基础的管理相结合的综合文化敏感策略,以改善受遗传性结直肠癌影响的个人和家庭的预后。未来的努力应侧重于解决在获得护理方面的差距,并扩大研究,以提高对这一复杂疾病的理解和管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa.

This study compares three hereditary colorectal cancer (CRC) registries-the Iranian Hereditary Colorectal Cancer Registry (IHCCR), the Singapore Polyposis Registry (SPR), and the University of Cape Town Familial CRC Registry-to illuminate diverse approaches to identification, management, and research across different healthcare systems. Each registry, while emphasizing patient diversity, employed unique strategies reflecting available resources and epidemiological contexts. The IHCCR, leveraging WES, revealed considerable genetic heterogeneity, including novel mutations. The SPR, a nationalized service, focused on structured surveillance and management of FAP and other polyposis syndromes, highlighting the challenges of cultural conservatism and limited public awareness. The UCT registry, initially concentrating on Lynch syndrome, expanded to encompass other hereditary CRC syndromes, revealing a high prevalence of these conditions within the South African population. All three registries encountered challenges related to access to genetic testing and early diagnosis. The registries' combined experiences underscore the critical need for integrated, culturally sensitive strategies combining genetic testing, enhanced surveillance, and family-based management to improve outcomes for individuals and families affected by hereditary CRC. Future efforts should focus on addressing disparities in access to care and expanding research to improve understanding and management of this complex disease.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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