From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (C;T)
|
1.2
|
1.2x increased risk for prostate cancer
|
| (T;T)
|
2.1
|
2x increased prostate cancer risk; among breast cancer patients, herceptin is less effective
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
, a SNP in the fibroblast growth factor receptor 4 (
FGFR4) gene, is also known as the Gly388Arg variant. The
rs351855(T) allele encodes the risk (Arg) allele.
The Arg form of this SNP is likely to cause a harder to treat version of node-positive breast cancer, including reducing the efficacy of Herceptin, based on a study of 372 patients.[PMID 16822847]
A study of ~500 Japanese prostate cancer patients found that individuals with a rs351855(T;T) genotype had a 2.2- and 1.9-fold increased risk of prostate cancer and benign prostate hyperplasia (BPH), and a 1.8-fold increased risk of metastatic prostate cancer compared to the (C;C) genotype.[PMID 18756523]
A meta-analysis published in 2011, surveying a total of 2,618 cases of prostate cancer, concluded that the odds ratio per rs351855(T) allele was 1.17 (CI: 1.07 - 1.29), and that when stratified by race, Caucasians and Asians were at highest risk.[PMID 21349172]
[PMID 18762813] ~1500 prostate cancer patients showed only a weak association between rs351855 and prostate-cancer specific mortality, and no evidence associating it with prostate cancer risk, disease aggressiveness, Gleason score, or stage.
| PharmGKB | PA161822200 |
| Name | FGFR4:GLY388ARG, FGFR4:Arg388 |
| Annotation | This variant is associated with cancer progression and tumor cell motility. Patients carrying arg388 allele was associated with metastasis and poor prognosis in breast cancer and in colon cancer as well as poor clinical outcome for head and neck squamous cell carcinoma. possible association with sensitivity to cisplatin. It is associated with resistence to adjuvent systemic therapy in primary breast cancer. |
| Gene | FGFR4 |
| Featue | |
| Evidence | PubMed ID:11830541; PubMed ID:15197773; PubMed ID:16822847; PubMed ID:17084840; PubMed ID:18487077 |
| Drugs | cisplatin, cyclophosphamide, fluorouracil, methotrexate, tamoxifen |
| Diseases | Breast Neoplasms |
| Curation Level | Curated |
[PMID 21412156] Meta and pooled analyses of FGFR4 Gly388Arg polymorphism as a cancer prognostic factor
[PMID 21656577] Association between fibroblast growth factor receptor 4 polymorphisms and risk of hepatocellular carcinoma
[PMID 22271411] Pharmacogenetics of the Effects of Colesevelam on Colonic Transit in Irritable Bowel Syndrome with Diarrhea.
[PMID 22313031] Fibroblast Growth Factor Receptor 4 Polymorphisms and Susceptibility to Coronary Artery Disease.
