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Review

Application of Genotype-Guided Cancer Therapy in Solid Tumors

Pages 79-93 | Published online: 16 Dec 2013

References

  • Evans WE , RellingMV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science286(5439) , 487–491 (1999).
  • Deenen MJ , CatsA, BeijnenJH, SchellensJH. Part 1: background, methodology, and clinical adoption of pharmacogenetics. Oncologist16(6) , 811–819 (2011).
  • Watters JW , McLeodHL. Cancer pharmacogenomics: current and future applications. Biochim. Biophys. Acta1603(2) , 99–111 (2003).
  • Wang L , McleodHL, WeinshilboumRM. Genomics and drug response. N. Engl. J. Med.364(12) , 1144–1153 (2011).
  • Lash TL , LienEA, SorensenHT, Hamilton-DutoitS. Genotype-guided tamoxifen therapy: time to pause for reflection? Lancet Oncol.10(8) , 825–833 (2009).
  • Irvin WJ Jr, Walko CM, Weck KE et al. Genotype-guided tamoxifen dosing increases active metabolite exposure in women with reduced CYP2D6 metabolism: a multicenter study. J. Clin. Oncol.29(24) , 3232–3239 (2011).
  • Madlensky L , NatarajanL, TchuS et al. Tamoxifen metabolite concentrations, CYP2D6 genotype, and breast cancer outcomes. Clin. Pharmacol. Ther. 89(5) , 718–725 (2011).
  • Goetz MP , KnoxSK, SumanVJ et al. The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res. Treat. 101(1) , 113–121 (2007).
  • Regan MM , Leyland-JonesB, BouzykM et al. CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1–98 trial. J. Natl Cancer Inst.104(6) , 441–451 (2012).
  • Rae JM , DruryS, HayesDF et al. CYP2D6 and UGT2B7 genotype and risk of recurrence in tamoxifen-treated breast cancer patients. J. Natl Cancer Inst.104(6) , 452–460 (2012).
  • Nakamura Y , RatainMJ, CoxNJ, McLeodHL, KroetzDL, FlockhartDA. Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1–98 trial. J. Natl Cancer Inst.104(16) , 1264; author reply 1266–1268 (2012).
  • Dezentje VO , van Schaik RH, Vletter-Bogaartz JM et al.CYP2D6 genotype in relation to tamoxifen efficacy in a Dutch cohort of the tamoxifen exemestane adjuvant multinational (TEAM) trial. Breast Cancer Res. Treat.140(2) , 363–373 (2013).
  • Ahmad A , AliSM, AhmadMU, SheikhS, AhmadI. Orally administered endoxifen is a new therapeutic agent for breast cancer. Breast Cancer Res. Treat.122(2) , 579–584 (2010).
  • Seck K , RiemerS, KatesR et al. Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. Clin. Cancer Res. 11(16) , 5886–5892 (2005).
  • van Kuilenburg AB , MeinsmaR, ZoetekouwL, van Gennip AH. High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics12(7) , 555–558 (2002).
  • van Kuilenburg AB , HaasjesJ, RichelDJ et al. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin. Cancer Res. 6(12) , 4705–4712 (2000).
  • Toffoli G , CecchinE. Pharmacogenetics and stomach cancer: an update. Pharmacogenomics8(5) , 497–505 (2007).
  • Deenen MJ , CatsA, SechterbergerMK, SeverensJL, SmitsPHM. Safety, pharmacokinetics (PK), and cost effectiveness of upfront genotyping of DPYD in fluoropyrimidine therapy. J. Clin. Oncol.29(Suppl.), Abstract 3606 (2011).
  • Yen JL , McLeodHL. Should DPD analysis be required prior to prescribing fluoropyrimidines? Eur. J. Cancer43(6) , 1011–1016 (2007).
  • Perera MA , InnocentiF, RatainMJ. Pharmacogenetic testing for uridine diphosphate glucuronosyltransferase 1A1 polymorphisms: are we there yet? Pharmacotherapy28(6) , 755–768 (2008).
  • Hoskins JM , GoldbergRM, QuP, IbrahimJG, McLeodHL. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J. Natl Cancer Inst.99(17) , 1290–1295 (2007).
  • Marcuello E , PaezD, PareL 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 105(1) , 53–57 (2011).
  • Toffoli G , CecchinE, GaspariniG et al. Genotype-driven Phase I study of irinotecan administered in combination with fluorouracil/leucovorin in patients with metastatic colorectal cancer. J. Clin. Oncol. 28(5) , 866–871 (2010).
  • Kawakami K , GrazianoF, WatanabeG et al. Prognostic role of thymidylate synthase polymorphisms in gastric cancer patients treated with surgery and adjuvant chemotherapy. Clin. Cancer Res. 11(10) , 3778–3783 (2005).
  • Villafranca E , OkruzhnovY, DominguezMA et al. Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer. J. Clin. Oncol. 19(6) , 1779–1786 (2001).
  • Tan BR , ThomasF, MyersonRJ et al. Thymidylate synthase genotype-directed neoadjuvant chemoradiation for patients with rectal adenocarcinoma. J. Clin. Oncol. 29(7) , 875–883 (2011).
  • Mehta VK , ChoC, FordJM et al. Phase II trial of preoperative 3D conformal radiotherapy, protracted venous infusion 5-fluorouracil, and weekly CPT-11, followed by surgery for ultrasound-staged T3 rectal cancer. Int. J. Radiat. Oncol. Biol. Phys. 55(1) , 132–137 (2003).
  • Klautke G , FeyerherdP, LudwigK, PrallF, FoitzikT, FietkauR. Intensified concurrent chemoradiotherapy with 5-fluorouracil and irinotecan as neoadjuvant treatment in patients with locally advanced rectal cancer. Br. J. Cancer92(7) , 1215–1220 (2005).
  • Mohiuddin M , WinterK, MitchellE et al. Randomized Phase II study of neoadjuvant combined-modality chemoradiation for distal rectal cancer: Radiation Therapy Oncology Group Trial 0012. J. Clin. Oncol. 24(4) , 650–655 (2006).
  • Iles S , GollinsS, SusnerwalaS et al. Irinotecan+5-fluorouracil with concomitant pre-operative radiotherapy in locally advanced non-resectable rectal cancer: a Phase I/II study. Br. J. Cancer 98(7) , 1210–1216 (2008).
  • Patel JN , FuchsCS, OzwarK, ChenZ, McLeodHL. Gastric cancer pharmacogenetics: progress or old tripe? Pharmacogenomics14(9) , 1053–1064 (2013).
  • Hancock L . The inhibition of anaplastic lymphoma kinase in non-small cell lung tumours with the ALK rearrangement may result in tumour shrinkage. Thorax doi:10.1136/thx.2011.159467 (2011) (Epub ahead of print).
  • Kwak EL , BangYJ, CamidgeDR et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N. Engl. J. Med. 363(18) , 1693–1703 (2010).
  • Camidge DR , BangYJ, KwakEL et al. Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a Phase 1 study. Lancet Oncol. 13(10) , 1011–1019 (2012).
  • Shaw AT , KimDW, NakagawaK et al. Crizotinib versus chemotherapy in advanced ALK-positive lung cancer. N. Engl. J. Med. 368(25) , 2385–2394 (2013).
  • Mosse YP , LimMS, VossSD et al. Safety and activity of crizotinib for paediatric patients with refractory solid tumours or anaplastic large-cell lymphoma: a Children‘s Oncology Group Phase 1 consortium study. Lancet Oncol. 14(6) , 472–480 (2013).
  • Davies H , BignellGR, CoxC et al. Mutations of the BRAF gene in human cancer. Nature 417(6892) , 949–954 (2002).
  • Chapman PB , HauschildA, RobertC et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med. 364(26) , 2507–2516 (2011).
  • Su F , VirosA, MilagreC et al. RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors. N. Engl. J. Med.366(3) , 207–215 (2012).
  • Flaherty KT , InfanteJR, DaudA et al. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N. Engl. J. Med. 367(18) , 1694–1703 (2012).
  • Fletcher CD , BermanJJ, CorlessC et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum. Pathol. 33(5) , 459–465 (2002).
  • Blanke CD , RankinC, DemetriGD et al. Phase III randomized, intergroup trial assessing imatinib mesylate at two dose levels in patients with unresectable or metastatic gastrointestinal stromal tumors expressing the kit receptor tyrosine kinase: S0033. J. Clin. Oncol. 26(4) , 626–632 (2008).
  • Heinrich MC , OwzarK, CorlessCL et al. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 study by Cancer and Leukemia Group B and Southwest Oncology Group. J. Clin. Oncol. 26(33) , 5360–5367 (2008).
  • Zhou C , WuYL, ChenG et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, Phase 3 study. Lancet Oncol. 12(8) , 735–742 (2011).
  • Sequist LV , YangJC, YamamotoN et al. Phase III study of afatinib or cisplatin plus pemetrexed in patients with metastatic lung adenocarcinoma with EGFR mutations. J. Clin. Oncol. 31(27) , 3327–3334 (2013).
  • Katakami N , AtagiS, GotoK et al. LUX-Lung 4: a Phase II trial of afatinib in patients with advanced non-small-cell lung cancer who progressed during prior treatment with erlotinib, gefitinib, or both. J. Clin. Oncol. 31(27) , 3335–3341 (2013).
  • Piccart-Gebhart MJ , ProcterM, Leyland-JonesB et al. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N. Engl. J. Med. 353(16) , 1659–1672 (2005).
  • Untch M , RezaiM, LoiblS et al. Neoadjuvant treatment with trastuzumab in HER2-positive breast cancer: results from the GeparQuattro study. J. Clin. Oncol. 28(12) , 2024–2031 (2010).
  • Geyer CE , ForsterJ, LindquistD et al. Lapatinib plus capecitabine for HER2-positive advanced breast cancer. N. Engl. J. Med. 355(26) , 2733–2743 (2006).
  • Baselga J , CortesJ, KimSB et al. Pertuzumab plus trastuzumab plus docetaxel for metastatic breast cancer. N. Engl. J. Med. 366(2) , 109–119 (2012).
  • Verma S , MilesD, GianniL et al. Trastuzumab emtansine for HER2-positive advanced breast cancer. N. Engl. J. Med. 367(19) , 1783–1791 (2012).
  • Bang YJ , van Cutsem E, Feyereislova A et al. Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a Phase 3, open-label, randomised controlled trial. Lancet376(9742) , 687–697 (2010).
  • Douillard JY , SienaS, CassidyJ et al. Randomized, Phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. J. Clin. Oncol. 28(31) , 4697–4705 (2010).
  • van Cutsem E , KohneCH, LangI et al. Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status. J. Clin. Oncol. 29(15) , 2011–2019 (2011).
  • Conti R , VeenstraDL, ArmstrongK, LeskoLJ, GrosseSD. Personalized medicine and genomics: challenges and opportunities in assessing effectiveness, cost–effectiveness, and future research priorities. Med. Decis. Making30(3) , 328–340 (2010).
  • Gonzalez-Angulo AM , HennessyBT, MillsGB. Future of personalized medicine in oncology: a systems biology approach. J. Clin. Oncol.28(16) , 2777–2783 (2010).
  • Ragoussis J . Genotyping technologies for genetic research. Annu. Rev. Genomics Hum. Genet.10 , 117–133 (2009).
  • Frey LJ , PiccoloSR, EdgertonME. Multiplicity: an organizing principle for cancers and somatic mutations. BMC Med. Genomics4 , 52 (2011).
  • Stanek EJ , SandersCL, TaberKA et al. Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin. Pharmacol. Ther. 91(3) , 450–458 (2012).
  • McKinnon RA , WardMB, SorichMJ. A critical analysis of barriers to the clinical implementation of pharmacogenomics. Ther. Clin. Risk Manag.3(5) , 751–759 (2007).
  • Vijverberg SJ , PietersT, CornelMC. Ethical and social issues in pharmacogenomics testing. Curr. Pharm. Des.16(2) , 245–252 (2010).
  • Lipton P . Pharmacogenetics: the ethical issues. Pharmacogenomics J.3(1) , 14–16 (2003).
  • Rothstein MA . Is GINA worth the wait? J. Law Med. Ethics36(1) , 174–178 (2008).
  • Hudson KL . Genomics, health care, and society. N. Engl. J. Med.365(11) , 1033–1041 (2011).
  • Warner AW , BhathenaA, GilardiS et al. Challenges in obtaining adequate genetic sample sets in clinical trials: the perspective of the industry pharmacogenomics working group. Clin. Pharmacol. Ther. 89(4) , 529–536 (2011).
  • McLeod HL . Cancer pharmacogenomics: early promise, but concerted effort needed. Science339(6127) , 1563–1566 (2013).
  • Deverka PA , VernonJ, McLeodHL. Economic opportunities and challenges for pharmacogenomics. Annu. Rev. Pharmacol. Toxicol.50 , 423–437 (2010).
  • Relling MV , AltmanRB, GoetzMP, EvansWE. Clinical implementation of pharmacogenomics: overcoming genetic exceptionalism. Lancet Oncol.11(6) , 507–509 (2010).
  • Pirker R , HerthFJ, KerrKM et al. Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J. Thorac. Oncol. 5(10) , 1706–1713 (2010).
  • Moran T , SequistLV. Timing of epidermal growth factor receptor tyrosine kinase inhibitor therapy in patients with lung cancer with EGFR mutations. J. Clin. Oncol.30(27) , 3330–3336 (2012).
  • Relling MV , KleinTE. CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin. Pharmacol. Ther.89(3) , 464–467 (2011).
  • Frueh FW , AmurS, MummaneniP et al. Pharmacogenomic biomarker information in drug labels approved by the United States Food and Drug Administration: prevalence of related drug use. Pharmacotherapy 28(8) , 992–998 (2008).
  • Jin Y , DestaZ, StearnsV et al. CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. J. Natl Cancer Inst.97(1) , 30–39 (2005).
  • Nowell SA , AhnJ, RaeJM et al. Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients. Breast Cancer Res. Treat. 91(3) , 249–258 (2005).
  • Irvin WJ Jr, Walko CM, Weck KE et al. Genotype-guided tamoxifen dosing increases active metabolite exposure in women with reduced CYP2D6 metabolism: a multicenter study. J. Clin. Oncol.29(24) , 3232–3239 (2011).
  • Saif MW , EzzeldinH, VanceK, SellersS, DiasioRB. DPYD*2A mutation: the most common mutation associated with DPD deficiency. Cancer Chemother. Pharmacol.60(4) , 503–507 (2007).
  • Diasio RB , JohnsonMR. Dihydropyrimidine dehydrogenase: its role in 5-fluorouracil clinical toxicity and tumor resistance. Clin. Cancer Res.5(10) , 2672–2673 (1999).
  • Thomas F , HoskinsJM, DvorakA, TanBR, McLeodHL. Detection of the G>C SNP and rare mutations in the 28-bp repeat of TYMS using gel-based capillary electrophoresis. Pharmacogenomics11(12) , 1751–1756 (2010).
  • Johnston PG , LenzHJ, LeichmanCG et al. Thymidylate synthase gene and protein expression correlate and are associated with response to 5-fluorouracil in human colorectal and gastric tumors. Cancer Res. 55(7) , 1407–1412 (1995).
  • Innocenti F , UndeviaSD, IyerL et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J. Clin. Oncol. 22(8) , 1382–1388 (2004).
  • Soda M , ChoiYL, EnomotoM et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448(7153) , 561–566 (2007).
  • Joensuu H , RobertsPJ, Sarlomo-RikalaM et al. Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N. Engl. J. Med. 344(14) , 1052–1056 (2001).
  • Verweij J , CasaliPG, ZalcbergJ et al. Progression-free survival in gastrointestinal stromal tumours with high-dose imatinib: randomised trial. Lancet 364(9440) , 1127–1134 (2004).
  • Lynch TJ , BellDW, SordellaR et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350(21) , 2129–2139 (2004).
  • Paez JG , JannePA, LeeJC et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science304(5676) , 1497–1500 (2004).
  • Zhou C , WuYL, ChenG et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, Phase 3 study. Lancet Oncol. 12(8) , 735–742 (2011).
  • Yang XR , Chang-ClaudeJ, GoodeEL et al. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J. Natl Cancer Inst. 103(3) , 250–263 (2011).
  • Owens MA , HortenBC, Da Silva MM. HER2 amplification ratios by fluorescence in situ hybridization and correlation with immunohistochemistry in a cohort of 6556 breast cancer tissues. Clin. Breast Cancer5(1) , 63–69 (2004).
  • King CR , KrausMH, AaronsonSA. Amplification of a novel v-erbB-related gene in a human mammary carcinoma. Science229(4717) , 974–976 (1985).
  • Siddiqui AD , PiperdiB. KRAS mutation in colon cancer: a marker of resistance to EGFR-I therapy. Ann. Surg. Oncol.17(4) , 1168–1176 (2010).
  • Bos JL , FearonER, HamiltonSR et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 327(6120) , 293–297 (1987).
  • Cohen MH , JohnsonJR, ChenYF, SridharaR, PazdurR. FDA drug approval summary: erlotinib (Tarceva) tablets. Oncologist10(7) , 461–466 (2005).
  • Johnson JR , CohenM, SridharaR et al. Approval summary for erlotinib for treatment of patients with locally advanced or metastatic non-small cell lung cancer after failure of at least one prior chemotherapy regimen. Clin. Cancer Res. 11(18) , 6414–6421 (2005).
  • Gao G , RenS, LiA et al. Epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) therapy is effective as first-line treatment of advanced non-small-cell lung cancer with mutated EGFR: a meta-analysis from 6 Phase III randomized controlled trials. Int. J. Cancer 31(5) , E822–E829 (2011).

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