Goshayeshi Ladan, Eu Ernest Wencong, Ramesar Raj, Goldberg Paul, Tan Yu Bin, Algar Ursula, Manisekaran Rutharra Ghayadthri, Li Shao-Tzu, Caeser Rebecca, Boutall Adam, Goshayeshi Lena, Monahan Kevin J, Ngeow Joanne
Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, 91779-48564, Iran.
Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, 91779-48954, Iran.
Fam Cancer. 2025 Sep 5;24(4):70. doi: 10.1007/s10689-025-00494-4.
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.
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CRC登记处——以阐明不同医疗体系中在识别、管理和研究方面的不同方法。每个登记处虽然都强调患者的多样性，但都采用了反映可用资源和流行病学背景的独特策略。IHCCR利用全外显子测序（WES）揭示了相当大的基因异质性，包括新的突变。SPR作为一项国有化服务，专注于家族性腺瘤性息肉病（FAP）和其他息肉病综合征的结构化监测和管理，凸显了文化保守主义和公众意识有限所带来的挑战。开普敦大学登记处最初专注于林奇综合征，后来扩展到涵盖其他遗传性CRC综合征，揭示了这些病症在南非人群中的高患病率。所有三个登记处都遇到了与基因检测可及性和早期诊断相关的挑战。这些登记处的综合经验强调了迫切需要采取综合的、对文化敏感的策略，将基因检测、强化监测和基于家庭的管理相结合，以改善受遗传性CRC影响的个人和家庭的治疗效果。未来的努力应集中在解决医疗服务可及性方面的差异，并扩大研究以增进对这种复杂疾病的理解和管理。
