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APC

From SNPedia

is agene
is mentioned by
Full nameadenomatous polyposis coli
EntrezGene324
PheGenI324
VariationViewer324
ClinVarAPC
GeneCardsAPC
dbSNP324
DiseasesAPC
SADR324
HugeNav324
wikipediaAPC
googleAPC
gopubmedAPC
EVSAPC
HEFalMpAPC
MyGene2APC
23andMeAPC
UniProtP25054
EnsemblENSG00000134982
OMIM611731
# SNPs381
 Max MagnitudeChromosome positionSummary
i3002485
rs10192212390112,835,093
rs10575175440112,841,546
rs10575175530112,838,607
rs10575175580112,839,550
rs10575175590112,815,595
rs10575175610112,827,249
rs10575175680112,841,965
rs10575184720112,839,201
rs10575189010112,840,495
rs10575198430112,839,522
rs10575198440112,839,522
rs10575198450112,839,990
rs10575198460112,840,263
rs10605032590112,828,971
rs10605032610112,801,383
rs10605032630112,815,534
rs10605032820112,837,691
rs10605032870112,838,229
rs10605032990112,839,421
rs10605033050112,837,692
rs10605033070112,838,504
rs10605033100112,837,903
rs10605033180112,835,165
rs10605033210112,837,727
rs10605033230112,780,782
rs10605033260112,839,171
rs10605033270112,838,835
rs10605033280112,775,677
rs10605033330112,821,953
rs10605033340112,801,310
rs10605033360112,837,690
rs10605033400112,821,985
rs10605033550112,842,570
rs10605033600112,835,086
rs10605033620112,838,780
rs10605033650112,839,067
rs10647929770112,834,940
rs10647929780112,841,841
rs10647929790112,839,951
rs10647929800112,839,998
rs10647930200112,767,201
rs10647930210112,767,309
rs10647930220112,815,487
rs10647930240112,841,358
rs10647933630112,841,156
rs10647935300112,818,988
rs10647935350112,767,318
rs10647937780112,838,929
rs10647939690112,841,433
... further results

Familial adenomatous polyposis (FAP), a dominantly inherited disease, is characterized by the development of multiple colorectal polyps and may progress to colorectal cancer. FAP is primarily caused by functional mutations in the adenomatous polyposis coli (APC) gene.

The APC gene product functions as a tumor suppressor, and although most mutations in it leading to cancer appear to be somatic, there are some that are inherited. Although the percent of colorectal cancer caused by mutations of the APC gene leading to the development of FAP is under 1% , germline (inherited) APC mutations are highly causative. Most mutations are in exon 15 and are either nonsense or frameshift mutations. Codons 1061 and 1309 are the most common inherited mutation sites, often resulting in a frameshift.

At least three APC mutations are relatively well known:

  • The first is rs1801155, the "p.I1307K" variant found in Ashkenazi Jews, associated with a several-fold increased risk for development of multiple adenomas and colorectal cancer.
  • The second is rs1801166, also known as "p.E1317Q".
  • And the third is rs587782557, which leads to an attentuated form of FAP. This mutation, also known as c.426_427delAT, is linked to a founding couple who came to America from England around 1630, and who are likely to have many descendants in the US, including several Mormon kindreds among in Utah.[PMID 18063416OA-icon.png]