KEGG DISEASE: Sessile serrated polyposis cancer syndrome

KEGG

DISEASE: Sessile serrated polyposis cancer syndrome

Entry

H02795                      Disease

Name

Sessile serrated polyposis cancer syndrome

Description

The serrated polyposis syndrome comprises multiple epithelial polyps in the colon and rectum of serrated histology. The serrated polyposis syndrome is associated with colorectal cancer risk. Recently, germline pathogenic variants in RNF43 have been proposed to underlie sessile serrated polyposis cancer syndrome (SSPCS). RNF43 encodes the RING-type E3 ubiquitin ligase that inhibits the Wnt pathway.

Category

Neoplasm

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2E92  Benign neoplasm of digestive organs
     H02795  Sessile serrated polyposis cancer syndrome

Gene

RNF43 [HSA:54894] [KO:K15694]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Boparai KS, Reitsma JB, Lemmens V, van Os TA, Mathus-Vliegen EM, Koornstra JJ, Nagengast FM, van Hest LP, Keller JJ, Dekker E

Title

Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome.

Journal

Gut 59:1222-5 (2010)
DOI:10.1136/gut.2009.200741

Reference

Authors

Taupin D, Lam W, Rangiah D, McCallum L, Whittle B, Zhang Y, Andrews D, Field M, Goodnow CC, Cook MC

Title

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

Journal

Hum Genome Var 2:15013 (2015)
DOI:10.1038/hgv.2015.13

Reference

Authors

Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuss S, Muller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ

Title

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Journal

Clin Genet 101:122-126 (2022)
DOI:10.1111/cge.14064

LinkDB

» Japanese version

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