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Carrier Frequency and Incidence of MUTYH -Associated Polyposis Based on Database Analysis in East Asians and Koreans

Year: 2024
Type: article
Abstract: Background: -associated polyposis in East Asian and Korean populations, for which limited data were previously available. Methods: variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen. Results: -associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (non-Finnish) incidence of 1 in 11,520. Conclusions: -associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.
DOI: 10.3343/alm.2024.0242
Authors: Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong
Institutions: Hanyang University Guri Hospital, Kangbuk Samsung Hospital, Sungkyunkwan University, Samsung Medical Center, Yonsei University, Yonsei University Health System, Hanyang University, National Cancer Center
Language: English
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4404084485
FWCI: 1.594
Cites: 29
Cited by: 6
Related to: 10