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Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data inclu...

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Detalles Bibliográficos
Autores principales: Valle, Laura, Katz, Lior H, Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M, Heald, Brandie, Capellá, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646901/
https://www.ncbi.nlm.nih.gov/pubmed/37076288
http://dx.doi.org/10.1136/jmg-2022-108984