KEGG DISEASE: Familial adenomatous polyposis

DISEASE: Familial adenomatous polyposis

Entry

H01025                      Disease

Name

Familial adenomatous polyposis

Subgroup

Hereditary desmoid disease (DESMD)

Supergrp

Colorectal cancer [DS:H00020]
Solid tumor [DS:H02421]

Description

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.

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
     H01025  Familial adenomatous polyposis
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H01025  Familial adenomatous polyposis
  nt06503  Mismatch repair
   H01025  Familial adenomatous polyposis
Cellular process
  nt06541  Cytoskeleton in neurons
   H01025  Familial adenomatous polyposis

Pathway

hsa04310

Wnt signaling pathway

hsa03410

Base excision repair

hsa03430

Mismatch repair

Network

nt06503 Mismatch repair
nt06504 Base excision repair
nt06541 Cytoskeleton in neurons

Gene

(FAP1/DESMD) APC [HSA:324] [KO:K02085]
(FAP2) MUTYH [HSA:4595] [KO:K03575]
(FAP3) NTHL1 [HSA:4913] [KO:K10773]
(FAP4) MSH3 [HSA:4437] [KO:K08736]

Other DBs

ICD-11:

2E92.4

MeSH:

D011125

OMIM:

175100 608456 616415 617100 135290

Reference

PMID:19822006 (FAP1_2)

Authors

Half E, Bercovich D, Rozen P

Title

Familial adenomatous polyposis.

Journal

Orphanet J Rare Dis 4:22 (2009)
DOI:10.1186/1750-1172-4-22

Reference

PMID:21884696 (FAP1)

Authors

Burgess AW, Faux MC, Layton MJ, Ramsay RG

Title

Wnt signaling and colon tumorigenesis--a view from the periphery.

Journal

Exp Cell Res 317:2748-58 (2011)
DOI:10.1016/j.yexcr.2011.08.010

Reference

PMID:33087284 (FAP3)

Authors

Das L, Quintana VG, Sweasy JB

Title

NTHL1 in genomic integrity, aging and cancer.

Journal

DNA Repair (Amst) 93:102920 (2020)
DOI:10.1016/j.dnarep.2020.102920

Reference

PMID:27476653 (FAP4)

Authors

Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S

Title

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Journal

Am J Hum Genet 99:337-51 (2016)
DOI:10.1016/j.ajhg.2016.06.015

Reference

PMID:8940264 (DESMD)

Authors

Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, du Boulay C, Primrose J, Burn J, Fodde R

Title

Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

Journal

Am J Hum Genet 59:1193-201 (1996)

LinkDB

» Japanese version

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