From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
normal
|
| (A;G)
|
0
|
normal
|
| (G;G)
|
2
|
if testicular cancer patient, 5x poorer response to bleomycin chemotherapy
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
Testicular cancer patients may be treated with bleomycin, a cytotoxic drug that is essential component of chemotherapy regimens for this cancer, officially known as disseminated testicular germ-cell cancer (TC). rs1050565 is a SNP in the BLMH gene. This gene encodes a protein that can inactivate bleomycin.
Based on a study of 300 TC patients treated with bleomycin, a testicular cancer patient with a rs1050565(G;G) genotype has an odds ratio of 4.97 (CI: 2.17 - 11.39) for TC-related death compared to (A;G) or (A;A) genotypes. The rs1050565(G;G) genotype also shows a higher prevalence of early relapses.[PMID 18398146]
| PharmGKB | PA162171855 |
| Name | BLMH:A1450G |
| Annotation | Testicular germ cell cancer patients carrying the homozygous G/G allele of this variant showed reduced survival and higher prevalence of early relapses after treatment with bleomycin-containing chemotherapy. |
| Gene | BLMH |
| Featue | |
| Evidence | PubMed ID:18398146 |
| Drugs | bleomycin |
| Diseases | Testicular Neoplasms |
| Curation Level | Curated |
