Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis

Author:

Quintana Isabel,Mejías-Luque Raquel,Terradas Mariona,Navarro Matilde,Piñol Virginia,Mur Pilar,Belhadj Sami,Grau Elia,Darder Esther,Solanes Ares,Brunet Joan,Capellá Gabriel,Gerhard Markus,Valle LauraORCID

Funder

Secretaría de Estado de Investigación, Desarrollo e Innovación

Generalitat de Catalunya

Instituto de Salud Carlos III

Publisher

BMJ

Subject

Gastroenterology

Reference7 articles.

1. RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation;Yan;Gut,2017

2. Snover DC , Ahnen DJ , Burt RW , et al . WHO Classification of tumours of the digestive system. In: Bosman ST CF , Hruban RH , Theise ND , eds. Serrated polyps of the colon and rectum and serrated (“hyperplastic”) polyposis. Berlin: Springer-Verlag, 2010.

3. Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study

4. Germline Mutations in Oncogene-Induced Senescence Pathways Are Associated With Multiple Sessile Serrated Adenomas

5. A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred

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