Page 28 - Read Online

Page 28 Kaehler et al. Cancer Drug Resist 2019;2:18-30 I http://dx.doi.org/10.20517/cdr.2019.05

32. Cecchin E, De Mattia E, Ecca F, Toffoli G. Host genetic profiling to increase drug safety in colorectal cancer from discovery to
implementation. Drug Resist Updat 2018;39:18-40.
33. Meinsma R, Fernandez-Salguero P, Van Kuilenburg AB, Van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism:
mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995;14:1-6.
34. Saif MW, Ezzeldin H, Vance K, Sellers S, Diasio RB. DPYD*2A mutation: the most common mutation associated with DPD deficiency.
Cancer Chemother Pharmacol 2007;60:503-7.
35. Offer SM, Lee AM, Mattison LK, Fossum C, Wegner NJ, et al. A DPYD variant (Y186C) in individuals of african ancestry is associated
with reduced DPD enzyme activity. Clin Pharmacol Ther 2013;94:158-66.
36. Khushman M, Patel GK, Hosein PJ, Laurini JA, Cameron D, et al. Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in
patients with gastrointestinal malignancies treated with fluoropyrimidines. J Gastrointest Oncol 2018;9:416-24.
37. Morel A, Boisdron-Celle M, Fey L, Soulie P, Craipeau MC, et al. Clinical relevance of different dihydropyrimidine dehydrogenase gene
single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer Ther 2006;5:2895-904.
38. Offer SM, Wegner NJ, Fossum C, Wang K, Diasio RB. Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity
using real-time cellular analysis and in vitro measurement of enzyme activity. Cancer Res 2013;73:1958-68.
39. Amstutz U, Henricks LM, Offer SM, Barbarino J, Schellens JHM, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther
2018;103:210-6.
40. Toffoli G, Innocenti F, Polesel J, De Mattia E, Sartor F, et al. The genotype for DPYD risk variants in patients with colorectal cancer
and the related toxicity management costs in clinical practice. Clin Pharmacol Ther 2018; doi: 10.1002/cpt.1257.
41. Henricks LM, Lunenburg C, de Man FM, Meulendijks D, Frederix GWJ, et al. DPYD genotype-guided dose individualisation of
fluoropyrimidine therapy in patients with cancer: a prospective safety analysis. Lancet Oncol 2018;19:1459-67.
42. Schroth W, Antoniadou L, Fritz P, Schwab M, Muerdter T, et al. Breast cancer treatment outcome with adjuvant tamoxifen relative to
patient CYP2D6 and CYP2C19 genotypes. J Clin Oncol 2007;25:5187-93.
43. Goetz MP, Sangkuhl K, Guchelaar HJ, Schwab M, Province M, et al. Clinical pharmacogenetics implementation consortium (CPIC)
guideline for CYP2D6 and tamoxifen therapy. Clin Pharmacol Ther 2018;103:770-7.
44. Brauch H, Schroth W, Goetz MP, Murdter TE, Winter S, et al. Tamoxifen use in postmenopausal breast cancer: CYP2D6 matters. J Clin
Oncol 2013;31:176-80.
45. Li J, Czene K, Brauch H, Schroth W, Saladores P, et al. Association of CYP2D6 metabolizer status with mammographic density change
in response to tamoxifen treatment. Breast Cancer Res 2013;15:R93.
46. Province MA, Goetz MP, Brauch H, Flockhart DA, Hebert JM, et al. CYP2D6 genotype and adjuvant tamoxifen: meta-analysis of
heterogeneous study populations. Clin Pharmacol Ther 2014;95:216-27.
47. Pelizzari G, Arpino G, Biganzoli L, Cinieri S, De Laurentiis M, et al. An Italian delphi study to evaluate consensus on adjuvant
endocrine therapy in premenopausal patients with breast cancer: the ERA project. BMC Cancer 2018;18:932.
48. Francis PA, Pagani O, Fleming GF, Walley BA, Colleoni M, et al. Tailoring adjuvant endocrine therapy for premenopausal breast
cancer. N Engl J Med 2018;379:122-37.
49. Fabian CJ. The what, why and how of aromatase inhibitors: hormonal agents for treatment and prevention of breast cancer. Int J Clin
Pract 2007;61:2051-63.
50. Morales L, Neven P, Paridaens R. Choosing between an aromatase inhibitor and tamoxifen in the adjuvant setting. Curr Opin Oncol
2005;17:559-65.
51. Drogemoller BI, Wright GEB, Shih J, Monzon JG, Gelmon KA, et al. CYP2D6 as a treatment decision aid for ER-positive non-
metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines. Breast Cancer Res Treat 2018;
doi: 10.1007/s10549-018-5027-0.
52. Mayer SE, Weiss NS, Chubak J, Doody DR, Carlson CS, et al. CYP2D6-inhibiting medication use and inherited CYP2D6 variation in
relation to adverse breast cancer outcomes after tamoxifen therapy. Cancer Causes Control 2019;30:103-12.
53. Sanchez-Spitman A, Dezentje V, Swen J, Moes D, Bohringer S, et al. Tamoxifen pharmacogenetics and metabolism: results from the
prospective CYPTAM study. J Clin Oncol 2019; doi: 10.1200/JCO.18.00307.
54. Aminkeng F, Ross CJ, Rassekh SR, Hwang S, Rieder MJ, et al. Recommendations for genetic testing to reduce the incidence of
anthracycline-induced cardiotoxicity. Br J Clin Pharmacol 2016;82:683-95.
55. Nagar S, Zalatoris JJ, Blanchard RL. Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele
frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells. Pharmacogenetics
2004;14:487-99.
56. Krishnaswamy S, Hao Q, Al-Rohaimi A, Hesse LM, von Moltke LL, et al. UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics:
II. Functional impact of the three most common nonsynonymous UGT1A6 polymorphisms (S7A, T181A, and R184S). J Pharmacol
Exp Ther 2005;313:1340-6.
57. Visscher H, Ross CJ, Rassekh SR, Sandor GS, Caron HN, et al. Validation of variants in SLC28A3 and UGT1A6 as genetic markers
predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer 2013;60:1375-81.
58. Aminkeng F, Bhavsar AP, Visscher H, Rassekh SR, Li Y, et al. A coding variant in RARG confers susceptibility to anthracycline-
induced cardiotoxicity in childhood cancer. Nat Genet 2015;47:1079-84.
59. Wojnowski L, Kulle B, Schirmer M, Schluter G, Schmidt A, et al. NAD(P)H oxidase and multidrug resistance protein genetic
polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation 2005;112:3754-62.