PMID: 23396606

Vulsteke C, Lambrechts D, Dieudonne A, Hatse S, Brouwers B, van Brussel T, Neven P, Belmans A, Schoffski P, Paridaens R, Wildiers H
Genetic variability in the multidrug resistance associated protein-1 (ABCC1/MRP1) predicts hematological toxicity in breast cancer patients receiving (neo-)adjuvant chemotherapy with 5-fluorouracil, epirubicin and cyclophosphamide (FEC).
Ann Oncol. 2013 Jun;24(6):1513-25. doi: 10.1093/annonc/mdt008. Epub 2013 Feb 7., [PubMed]
Sentences
No. Mutations Sentence Comment
70 ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 23396606:70:167
status: NEW
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 ABCC2/MRP2 Multidrug resistance-associated protein 2 Drug transporter implicated in energy-dependent transport of cytotoxic agents out of the cell rs8187710 c.4544G>A Cys1515Tyr A-allele carriers predispose to acute anthracycline-induced cardiotoxicity (Wojnowski et al. [17]). Login to comment 114 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 23396606:114:450
status: NEW
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 Overview of 33 additional SNPs located in genes involved in the pharmacokinetics (PK) or pharmacodynamics (PD) of the 5-fluorouracil (5-FU), epirubicin and cyclophosphamide (FEC) regimen Genes Name Function of the gene product Variant allele (rs number, position, amino acid change) PK or PD effect ABCBI/ MDR1 Multidrug resistance 1 Drug transporter implicated in energy-dependent transport of cytotoxic agents out of the cell rs2032582 c.2677G>T/A Ala893Ser/Thr Selected because missense mutations are likely to affect gene function. Login to comment 118 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 23396606:118:52
status: NEW
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ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 23396606:118:21
status: NEW
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 rs17222723 c.3563T>A Val1188Glu rs2273697 c.1249G>A Val417Ile DPD Dihydropirymidine dehydrogenase Enzyme involved in the degradation of pyrimidine and uracil analogs during 5-FU chemotherapy rs1801159 c.1627A>G Ile543Val Selected because missense mutations are likely to affect gene function. Login to comment 153 ABCC1 p.Gly671Val
X
ABCC1 p.Gly671Val 23396606:153:27
status: NEW
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 Since rs45511401 encodes a Gly671Val nonsynonymous mutation, whereas rs4148350 represents an intronic ABCC1/MRP1, rs45511401 most likely represents the causal variant underlying the association with toxicity. Login to comment 364 ABCC1 p.Gly671Val
X
ABCC1 p.Gly671Val 23396606:364:48
status: NEW
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 Jungsuwadee P, Zhao T, Stolarczyk El et al. The G671V variant of MRP1/ABCC1 links doxorubicin-induced acute cardiac toxicity to disposition of the glutathione conjugate of 4-hydroxy-2-trans-nonenal. Login to comment