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APC

From SNPedia

is agene
is mentioned by
Full nameadenomatous polyposis coli
EntrezGene324
PheGenI324
VariationViewer324
ClinVarAPC
dbSNP324
SADR324
HugeNav324
wikipediaAPC
googleAPC
gopubmedAPC
EVSAPC
HEFalMpAPC
MyGene2APC
23andMeAPC
UniProtP25054
EnsemblENSG00000134982
OMIM611731
# SNPs212
 Max MagnitudeChromosome positionSummary
rs11954856112,751,630
rs1219132240112,839,521
rs1219133270112,839,606
rs1219133320112,839,942
rs1219133335.1112,838,220
rs1378545670112,819,272
rs1378545680112,815,564
rs1378545690112,815,499
rs1378545700112,837,732
rs1378545710112,838,793
rs1378545720112,828,001
rs1378545730112,828,889
rs1378545740112,828,919
rs1378545750112,838,399
rs1378545760112,775,676
rs1378545770112,780,901
rs1378545780112,839,777
rs137854579112,839,514
rs1378545800112,827,194
rs137854581112,839,543
rs1378545820112,837,687
rs1378545830112,780,880
rs1383676270112,840,326
rs1459456300112,754,960
rs18011553112,839,514
rs18011663112,839,543
rs18041972112,844,212
rs22299920112,827,157
rs2431238112,788,672
rs289333790112,838,953
rs289333803112,839,514
rs2952615112,803,191
rs351771112,828,864
rs3710859100112,775,655
rs3762134370112,767,256
rs3879062280112,801,279
rs3879062290112,821,952
rs3879062300112,827,199
rs3879062310112,775,715
rs3879062320112,819,101
rs3879062330112,835,092
rs3879062340112,839,987
rs3879062350112,839,985
rs3879062360112,840,205
rs3879062370112,819,130
rs3879062380112,819,224
rs3879062390112,818,969
rs3975094330112,841,536
rs3975140300112,819,343
rs3975140310112,775,628
... 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.

Two APC missense mutations are 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".


[PMID 18063416] APC disease-causing mutation (c.426_427delAT) linked to a founding couple who came to America from England around 1630. Genetic analysis showed that the 2 families share a conserved haplotype of 7.17 Mbp surrounding the mutant APC allele ... were diagnosed with colorectal cancer.

http://medicalxpress.com/news/2012-08-scientists-iron-faulty-gene-bowel.html In mice, a low iron diet mitigated the risk of bowel cancer due to variation in this gene.