Rs1050565

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is asnp
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dbSNPrs1050565
hapmaprs1050565
hgdprs1050565
ensemblrs1050565
gopubmedrs1050565
scholarrs1050565
googlers1050565
pharmgkbrs1050565
medrefsnprs1050565
23andMers1050565
GeneBLMH
Chromosome17
Position25600202
GenotypeEffect
rs1050565(G;G)*if testicular cancer patient, 5x poorer response to bleomycin chemotherapy
rs1050565(A;G)normal
rs1050565(A;A)normal
Genotypes Magnitude Summary
Rs1050565(A;A) 00
Rs1050565(A;G) 00

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]

? (A;A) (A;G) (G;G)
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