Have questions? Visit https://www.reddit.com/r/SNPedia

rs1801155

From SNPedia

Also known as rs28933380, related to colorectal cancer, FAMILIAL, Ashkenazi

The APC I1307K mutation is primarily found in people of Ashkenazi Jewish heritage (Jews of Eastern European or Russian ancestry). Researchers believe that 6% of Ashkenazi Jews carry this gene mutation, making them at a significantly higher risk for developing colorectal cancer. It is also found among Sephardi and Mizrahi Jews and Muslim and Christian Palestinian Arabs, as well as Negev Bedouin.

Many patients with colorectal cancer experience no symptoms in the early stages. In fact, symptoms may not appear until the disease is in advanced stage. Routine colorectal screening is very important. Even children from 11 years of age should be screened if there is a family history of colorectal cancer.


Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3 risk of colon cancer and familial adenomatous polyposis (FAP) which usually progresses to malignancy
(A;T) 2.7 risk of colon cancer
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome5
Position112839514
GeneAPC
is asnp
is mentioned by
dbSNPrs1801155
ebirs1801155
HLIrs1801155
Exacrs1801155
Varsomers1801155
Maprs1801155
PheGenIrs1801155
hapmaprs1801155
1000 genomesrs1801155
hgdprs1801155
ensemblrs1801155
gopubmedrs1801155
geneviewrs1801155
scholarrs1801155
googlers1801155
pharmgkbrs1801155
gwascentralrs1801155
openSNPrs1801155
23andMers1801155
23andMe allrs1801155
SNP Nexus

SNPshotrs1801155
SNPdbers1801155
MSV3drs1801155
GWAS Ctlgrs1801155
Merged fromRs137854579, Rs28933380
GMAF0.00108
Max Magnitude3
Neighborrs28933379
Distance561
Neighborrs28933380
Distance1
OMIM611731
Desc
Variant0029
Relatedalso


ClinVar
Risk rs1801155(A;A)
Alt rs1801155(A;A)
Reference rs1801155(T;T)
Significance Other
Disease Adenomatous polyposis coli Breast cancer Familial adenomatous polyposis 1 not provided Hereditary cancer-predisposing syndrome not specified Colon cancer Colorectal cancer Familial multiple polyposis syndrome
Variation info
Gene APC
CLNDBN Adenomatous polyposis coli, susceptibility to Breast cancer, susceptibility to Familial adenomatous polyposis 1 not provided Hereditary cancer-predisposing syndrome not specified Colon cancer Colorectal cancer, susceptibility to Familial multiple polyposis syndrome
Reversed 0
HGVS NC_000005.9:g.112175211T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000864.2, RCV000000865.3, RCV000020088.5, RCV000034388.3, RCV000115087.4, RCV000120049.1, RCV000144683.1, RCV000210085.1, RCV000238802.1,



[PMID 14624392OA-icon.png] Genetic Anthropology of the Colorectal Cancer–Susceptibility Allele APC I1307K: Evidence of Genetic Drift within the Ashkenazim


[PMID 9288102] Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.


[PMID 9724771OA-icon.png] The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.


[PMID 15208782OA-icon.png] A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.


[PMID 20470408OA-icon.png] How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.


[PMID 9751605] Somatic instability of the APC I1307K allele in colorectal neoplasia.


[PMID 9869620] Cancer, crash sites, and the new genetics of neoplasia.


[PMID 9973276OA-icon.png] Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.


[PMID 11001924] Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.


[PMID 23896379] The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.