rs1801155
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.
- APC I1307K and Colorectal Cancer - Johns Hopkins Hereditary Colorectal Cancer Website
- Cancer.net: Familial Adenomatous Polyposis
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | risk of colon cancer and familial adenomatous polyposis (FAP) which usually progresses to malignancy |
| (A;T) | 4 | risk of colon cancer; familial adenomatous polyposis |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 112839514 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801155 |
| dbSNP (classic) | rs1801155 |
| ClinGen | rs1801155 |
| ebi | rs1801155 |
| HLI | rs1801155 |
| Exac | rs1801155 |
| Gnomad | rs1801155 |
| Varsome | rs1801155 |
| LitVar | rs1801155 |
| Map | rs1801155 |
| PheGenI | rs1801155 |
| Biobank | rs1801155 |
| 1000 genomes | rs1801155 |
| hgdp | rs1801155 |
| ensembl | rs1801155 |
| geneview | rs1801155 |
| scholar | rs1801155 |
| rs1801155 | |
| pharmgkb | rs1801155 |
| gwascentral | rs1801155 |
| openSNP | rs1801155 |
| 23andMe | rs1801155 |
| SNPshot | rs1801155 |
| SNPdbe | rs1801155 |
| MSV3d | rs1801155 |
| GWAS Ctlg | rs1801155 |
| Merged from | Rs137854579, Rs28933380 |
| GMAF | 0.00108 |
| Max Magnitude | 6 |
| 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 UniProtKB (protein) |
| CLNACC | RCV000000864.2, RCV000000865.3, RCV000020088.6, RCV000034388.3, RCV000115087.6, RCV000120049.1, RCV000144683.1, RCV000210085.1, RCV000238802.1, |
[PMID 14624392
] 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 9724771] The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
[PMID 15208782] A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.
[PMID 20470408] 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 9973276] 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.
