378
Views
6
CrossRef citations to date
0
Altmetric
Review

Advances and challenges in hereditary cancer pharmacogenetics

&
Pages 73-82 | Received 13 May 2016, Accepted 31 Aug 2016, Published online: 16 Sep 2016

References

  • De Mattos-Arruda L, Shen R, Reis-Filho JS, et al. Translating neoadjuvant therapy into survival benefits: one size does not fit all. Nat Rev Clin Oncol. 2016;13:566–579.
  • Wong DJ1, Ribas A2,3. Targeted therapy for melanoma. Cancer Treat Res. 2016;167:251–262.
  • Carneiro BA1, Kaplan JB, Giles FJ. Tyrosine kinase inhibitor therapy in chronic myeloid leukemia: update on key adverse events. Expert Rev Hematol. 2015;8:457–479.
  • Table of Pharmacogenomic Biomarkers in Drug Labeling. Avaliable from: http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm
  • Relling MV, Klein TE. CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin Pharmacol Ther. 2011;89:464–467.
  • Weinshilboum RM. Methylation pharmacogenetics: thiopurine methyltransferase as a model system. Xenobiotica. 1992;22:1055–1071.
  • Schaeffeler E, Fischer C, Brockmeier D, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-caucasians and identification of novel TPMT variants. Pharmacogenetics. 2004;14:407–417.
  • Schwab M, Schaffeler E, Marx C, et al. Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. Pharmacogenetics. 2002;12:429–436.
  • Teml A, Schaeffeler E, Herrlinger KR, et al. Thiopurine treatment in inflammatory bowel disease: clinical pharmacology and implication of pharmacogenetically guided dosing. Clin Pharmacokinet. 2007;46:187–208.
  • Plumpton CO, Roberts D, Pirmohamed M, et al. A systematic review of economic evaluations of pharmacogenetic testing for prevention of adverse drug reactions. Pharmacoeconomics. 2016 Mar 16;34:771–793.
  • Relling MV, Gardner EE, Sandborn WJ, et al. Clinical pharmacogenetics implementation consortium. clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther. 2011;89:387–391.
  • Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995;333:1171–1175.
  • Hoskins JM, Goldberg RM, Qu P, et al. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J Natl Cancer Inst. 2007;99:1290–1295.
  • Etienne-Grimaldi MC, Boyer JC, Thomas F, et al. UGT1A1 genotype and irinotecan therapy: general review and implementation in routine practice. Fundam Clin Pharmacol. 2015;29:219–237.
  • Dias MM, Pignon JP, Karapetis CS, et al. The effect of the UGT1A1*28 allele on survival after irinotecan-based chemotherapy: a collaborative meta-analysis. Pharmacogenomics J. 2014;14:424–431.
  • Marcuello E, Páez D, Paré L, et al. A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer. Br J Cancer. 2011;105:53–57.
  • Toffoli G, Sharma MR, Marangon E, et al. Genotype-guided dosing study of FOLFIRI plus bevacizumab in metastatic colorectal cancer patients. Clin Cancer Res. 2016 Aug 9 [ Epub ahead of print].
  • Gammal RS, Court MH, Haidar CE, et al. Clinical pharmacogenetics implementation consortium (CPIC) guideline for UGT1A1 and atazanavir prescribing. Clin Pharmacol Ther. 2016;99:363–369.
  • Offer SM, Lee AM, Mattison LK, et al. A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity. Clin Pharmacol Ther. 2013;94:158–166.
  • Offer SM, Fossum CC, Wegner NJ, et al. Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res. 2014;74:2545–2554.
  • Caudle KE, Thorn CF, Klein TE, et al. Clinical pharmacogenetics implementation consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther. 2013;94:640–645.
  • Wu X, Hawse JR, Subramaniam M, et al. The tamoxifen metabolite, endoxifen, is a potent antiestrogen that targets estrogen receptor alpha for degradation in breast cancer cells. Cancer Res. 2009;69:1722–1727.
  • Goetz MP, Knox SK, Suman VJ, et al. The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat. 2007;101:113–121.
  • Schroth W, Goetz MP, Hamann U, et al. Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA. 2009;302:1429–1436.
  • de Vries Schultink AH, Zwart W, Linn SC, et al. Effects of pharmacogenetics on the pharmacokinetics and pharmacodynamics of tamoxifen. Clin Pharmacokinet. 2015;54:797–810.
  • Juranka PF, Zastawny RL, Ling V. P-glycoprotein: multidrug-resistance and a superfamily of membrane-associated transport proteins. Faseb J. 1989;3:2583–2592.
  • Bruhn O, Cascorbi I. Polymorphisms of the drug transporters ABCB1, ABCG2, ABCC2 and ABCC3 and their impact on drug bioavailability and clinical relevance. Expert Opin Drug Metab Toxicol. 2014;10:1337–1354.
  • Cascorbi I. P-glycoprotein: tissue distribution, substrates, and functional consequences of genetic variations. Handb Exp Pharmacol. 2011;201:261–283.
  • Park HS, Lim SM, Shin HJ, et al. Pharmacogenetic analysis of advanced non-small-cell lung cancer patients treated with first-line paclitaxel and carboplatin chemotherapy. Pharmacogenet Genomics. 2016;26:116–125.
  • Lamba JK, Fridley BL, Ghosh TM, et al. Genetic variation in platinating agent and taxane pathway genes as predictors of outcome and toxicity in advanced non-small-cell lung cancer. Pharmacogenomics. 2014;15:1565–1574.
  • Zhou Z, Chen Q, Zuo D, et al. ABCB1 (rs1128503) polymorphism and response to chemotherapy in patients with malignant tumors-evidences from a meta-analysis. Int J Clin Exp Med. 2015;8:265–272.
  • Takakuwa O, Oguri T, Uemura T, et al. ABCB1 polymorphism as a predictive biomarker for amrubicin-induced neutropenia. Anticancer Res. 2014;34:3517–3522.
  • Ikeda M, Tsuji D, Yamamoto K, et al. Relationship between ABCB1 gene polymorphisms and severe neutropenia in patients with breast cancer treated with doxorubicin/cyclophosphamide chemotherapy. Drug Metab Pharmacokinet. 2015;30:149–153.
  • Vulsteke C, Pfeil AM, Schwenkglenks M, et al. Impact of genetic variability and treatment-related factors on outcome in early breast cancer patients receiving (neo-) adjuvant chemotherapy with 5-fluorouracil, epirubicin and cyclophosphamide, and docetaxel. Breast Cancer Res Treat. 2014;147:557–570.
  • Eckhoff L, Feddersen S, Knoop AS, et al. Docetaxel-induced neuropathy: a pharmacogenetic case-control study of 150 women with early-stage breast cancer. Acta Oncol. 2015;54:530–537.
  • Wu DD, Zhang JX, Li J, et al. Lack of association of the MDR1 C3435T polymorphism with susceptibility to gastric cancer and peptic ulcer: a systemic review and meta-analysis. Asian Pac J Cancer Prev. 2014;15:3021–3027.
  • Cascorbi I, Haenisch S. Pharmacogenetics of ATP-binding cassette transporters and clinical implications. Methods Mol Biol. 2010;596:95–121.
  • Megías-Vericat JE, Rojas L, Herrero MJ, et al. Influence of ABCB1 polymorphisms upon the effectiveness of standard treatment for acute myeloid leukemia: a systematic review and meta-analysis of observational studies. Pharmacogenomics J. 2015;15:109–118.
  • Ma CX, Sun YH, Wang HY. ABCB1 polymorphisms correlate with susceptibility to adult acute leukemia and response to high-dose methotrexate. Tumour Biol. 2015;36:7599–7606.
  • Jakobsen Falk I, Fyrberg A, Paul E, et al. Impact of ABCB1 single nucleotide polymorphisms 1236C>T and 2677G>T on overall survival in FLT3 wild-type de novo AML patients with normal karyotype. Br J Haematol. 2014;167:671–680.
  • Gregers J, Gréen H, Christensen IJ, et al. Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia. Pharmacogenomics J. 2015;15:372–379.
  • Kreile M, Rots D, Piekuse L, et al. Lack of association between polymorphisms in genes MTHFR and MDR1 with risk of childhood acute lymphoblastic leukemia. Asian Pac J Cancer Prev. 2014;15:9707–9711.
  • Zheng Q, Wu H, Yu Q, et al. ABCB1 polymorphisms predict imatinib response in chronic myeloid leukemia patients: a systematic review and meta-analysis. Pharmacogenomics J. 2015;15:127–134.
  • Zu B, Li Y, Wang X, et al. MDR1 gene polymorphisms and imatinib response in chronic myeloid leukemia: a meta-analysis. Pharmacogenomics. 2014;15:667–677.
  • Koo DH, Ryu MH, Ryoo BY, et al. Association of ABCG2 polymorphism with clinical efficacy of imatinib in patients with gastrointestinal stromal tumor. Cancer Chemother Pharmacol. 2015;75:173–182.
  • Chu YH, Li H, Tan HS, et al. Association of ABCB1 and FLT3 polymorphisms with toxicities and survival in Asian patients receiving sunitinib for renal cell carcinoma. PLoS One. 2015;10:e0134102.
  • Teo YL, Wee HL, Chue XP, et al. Effect of the CYP3A5 and ABCB1 genotype on exposure, clinical response and manifestation of toxicities from sunitinib in Asian patients. Pharmacogenomics J. 2016;16:47–53.
  • Diekstra MH, Swen JJ, Boven E, et al. CYP3A5 and ABCB1 polymorphisms as predictors for sunitinib outcome in metastatic renal cell carcinoma. Eur Urol. 2015 Oct;68(4):621–629.
  • Beuselinck B, Lambrechts D, Van Brussel T, et al. Efflux pump ABCB1 single nucleotide polymorphisms and dose reductions in patients with metastatic renal cell carcinoma treated with sunitinib. Acta Oncol. 2014;53:1413–1422.
  • Misaghian N, Misaghian N1, Ligresti G, et al. Targeting the leukemic stem cell: the holy grail of leukemia therapy. Leukemia. 2009;23:25–42.
  • Imai Y, Nakane M, Kage K, et al. C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Mol Cancer Ther. 2002;1:611–616.
  • Delord M, Rousselot P, Cayuela JM, et al. High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients. Oncotarget. 2013;4:1582–1591.
  • Salimizand H, Amini S, Abdi M, et al. Concurrent effects of ABCB1 C3435T, ABCG2 C421A, and XRCC1 Arg194Trp genetic polymorphisms with risk of cancer, clinical output, and response to treatment with imatinib mesylate in patients with chronic myeloid leukemia. Tumour Biol. 2016;37:791–798.
  • Chen X, Chen D, Yang S, et al. Impact of ABCG2 polymorphisms on the clinical outcome of TKIs therapy in Chinese advanced non-small-cell lung cancer patients. Cancer Cell Int. 2015;15:43.
  • Kobayashi H, Sato K, Niioka T, et al. Relationship among gefitinib exposure, polymorphisms of its metabolizing enzymes and transporters, and side effects in Japanese patients with non-small-cell lung cancer. Clin Lung Cancer. 2015;16:274–281.
  • Vulsteke C, Lambrechts D, Dieudonné A, et al. 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;24:1513–1525.
  • Au A, Baba AA, Azlan H, et al. Clinical impact of ABCC1 and ABCC2 genotypes and haplotypes in mediating imatinib resistance among chronic myeloid leukaemia patients. J Clin Pharm Ther. 2014;39:685–690.
  • Lopez-Lopez E, Ballesteros J, Piñan MA, et al. Polymorphisms in the methotrexate transport pathway: a new tool for MTX plasma level prediction in pediatric acute lymphoblastic leukemia. Pharmacogenet Genomics. 2013;23:53–61.
  • Cuffe S, Azad AK, Qiu X, et al. ABCC2 polymorphisms and survival in the Princess Margaret cohort study and the NCIC clinical trials group BR.24 trial of platinum-treated advanced stage non-small cell lung cancer patients. Cancer Epidemiol. 2016;41:50–56.
  • Lambrechts S, Lambrechts D, Despierre E, et al. Belgian and Luxembourg Gynaecological Oncology Group (BGOG). genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer. BMC Pharmacol Toxicol. 2015;16:2.
  • Chen X, Jiang M, Zhao RK, et al. Quantitative assessment of the association between ABC polymorphisms and osteosarcoma response: a meta-analysis. Asian Pac J Cancer Prev. 2015;16:4659–4664.
  • Ruzzo A, Graziano F, Galli F, et al. Genetic markers for toxicity of adjuvant oxaliplatin and fluoropyrimidines in the phase III TOSCA trial in high-risk colon cancer patients. Sci Rep. 2014;4:6828.
  • Choi JR, Kim JO, Kang DR, et al. Genetic variations of drug transporters can influence on drug response in patients treated with docetaxel chemotherapy. Cancer Res Treat. 2015;47:509–517.
  • Thomas J, Wang L, Clark RE, et al. Active transport of imatinib into and out of cells: implications for drug resistance. Blood. 2004;104:3739–3745.
  • White DL, Saunders VA, Dang P, et al. OCT-1-mediated influx is a key determinant of the intracellular uptake of imatinib but not nilotinib (AMN107): reduced OCT-1 activity is the cause of low in vitro sensitivity to imatinib. Blood. 2006;108:697–704.
  • Nies AT1, Schaeffeler E, van Der Kuip H, et al. Cellular uptake of imatinib into leukemic cells is independent of human organic cation transporter 1 (OCT1). Clin Cancer Res. 2014;20:985–994.
  • Grinfeld J, Gerrard G, Alikian M, et al. A common novel splice variant of SLC22A1 (OCT1) is associated with impaired responses to imatinib in patients with chronic myeloid leukaemia. Br J Haematol. 2013;163:631–639.
  • Koren-Michowitz M, Buzaglo Z, Ribakovsky E, et al. OCT1 genetic variants are associated with long term outcomes in imatinib treated chronic myeloid leukemia patients. Eur J Haematol. 2014;92:283–288.
  • Vine J, Cohen SB, Ruchlemer R, et al. Polymorphisms in the human organic cation transporter and the multidrug resistance gene: correlation with imatinib levels and clinical course in patients with chronic myeloid leukemia. Leuk Lymphoma. 2014;55:2525–2531.
  • Watkins DB, Hughes TP, White DL. OCT1 and imatinib transport in CML: is it clinically relevant? Leukemia. 2015;29:1960–1969.
  • Ingelman-Sundberg M, Cascorbi I. Pharmacogenomic or -epigenomic biomarkers in drug treatment: Two sides of the same medal? Clin Pharmacol Ther. 2016;99:478–480.
  • Haenisch S, Werk AN, Cascorbi I. MicroRNAs and their relevance to ABC transporters. Br J Clin Pharmacol. 2014;77:587–596.
  • Werk AN, Bruckmueller H, Haenisch S, et al. Genetic variants may play an important role in mRNA-miRNA interaction: evidence for haplotype-dependent downregulation of ABCC2 (MRP2) by miRNA-379. Pharmacogenet Genomics. 2014;24:283–291.
  • Lynch TJ1, Bell DW, Sordella R, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med. 2004;350:2129–2139.
  • Diouf B, Crews KR, Lew G, et al. Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia. JAMA. 2015;313:815–823.
  • Doherty M, Metcalfe T, Guardino E, et al. Precision medicine and oncology: an overview of the opportunities presented by next-generation sequencing and big data and the challenges posed to conventional drug development and regulatory approval pathways. Ann Oncol. 2016;27:1644–1646.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.