Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30–50% of cases of polyposis remain genetically unsolved. Thus, the aim o...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Ciavarella, Michele, Miccoli, Sara, Prossomariti, Anna, Pippucci, Tommaso, Bonora, Elena, Buscherini, Francesco, Palombo, Flavia, Zuntini, Roberta, Balbi, Tiziana, Ceccarelli, Claudio, Bazzoli, Franco, Ricciardiello, Luigi, Turchetti, Daniela, Piazzi, Giulia
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839046/
https://ncbi.nlm.nih.gov/pubmed/29367705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0086-y
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