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Familial cancer · 2025

Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa.

СтатьяСравнительное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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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

Аннотация

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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты