Germline genetic variation, cancer outcome, and pharmacogenetics

Journal of Clinical Oncology

Volumn 28, Issue 26, 2010, Pages 4029-4037

  Coate, Linda ^a   Cuffe, Sinead ^a   Horgan, Anne ^a   Hung, Rayjean J ^a   Christiani, David ^a   Liu, Geoffrey ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CAPECITABINE; CETUXIMAB; CISPLATIN; CYTOCHROME P450 2D6; DIHYDROPYRIMIDINE DEHYDROGENASE; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; FLUOROPYRIMIDINE; FLUOROPYRIMIDINE DERIVATIVE; FLUOROURACIL; GEFITINIB; GEMCITABINE; GLUCURONOSYLTRANSFERASE 1A1; IRINOTECAN; MERCAPTOPURINE; RITUXIMAB; TAMOXIFEN; TEGAFUR; THIOPURINE METHYLTRANSFERASE; THYMIDYLATE SYNTHASE; TRASTUZUMAB; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN;

ALLELE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DIARRHEA; ENZYME ACTIVITY; FAMILIAL CANCER; FOLLICULAR LYMPHOMA; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LUNG NON SMALL CELL CANCER; MULTIPLE CANCER; NEOPLASM; NEUTROPENIA; OUTCOME ASSESSMENT; OVARY CANCER; PHARMACOGENETICS; PRIORITY JOURNAL; PROGNOSIS; REVIEW; TREATMENT RESPONSE; BREAST TUMOR; GENETICS; MUTATION; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CYTOCHROME P-450 CYP2D6; DIHYDROURACIL DEHYDROGENASE (NADP); GENES, BRCA1; GENES, BRCA2; GENETIC VARIATION; GERM-LINE MUTATION; HUMANS; NEOPLASMS; PHARMACOGENETICS; PROGNOSIS;

EID: 77956930010     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2009.27.2336     Document Type: Review

References (126)

1. Yu K, Wang Z, Li Q, et al: Population substructure and control selection in genome-wide association studies. PLoS One 3:e2551, 2008
2. Grant SF, Hakonarson H: Microarray technology and applications in the arena of genome-wide association. Clin Chem 54:1116-1124, 2008 (Pubitemid 28318197)
3. Hopkins J, Cescon DW, Tse D, et al: Genetic polymorphisms and head and neck cancer outcomes: A review. Cancer Epidemiol Biomarkers Prev 17:490-499, 2008
4. Cheung WY, Liu G: Genetic variations in esophageal cancer risk and prognosis. Gastroenterol Clin North Am 38:75-91, 2009
5. Daly MJ, Rioux JD, Schaffner SF, et al: High-resolution haplotype structure in the human genome. Nat Genet 29:229-232, 2001
6. Marcus JN, Watson P, Page DL, et al: Hereditary breast cancer: Pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 77:697-709, 1996 (Pubitemid 23126602)
7. Gaffney DK, Brohet RM, Lewis CM, et al: Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 47:129-136, 1998
8. Verhoog LC, Brekelmans CT, Seynaeve C, et al: Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351:316-321, 1998 (Pubitemid 39025053)
9. Johannsson OT, Ranstam J, Borg A, et al: Survival of BRCA1 breast and ovarian cancer patients: A population-based study from southern Sweden. J Clin Oncol 16:397-404, 1998 (Pubitemid 41014339)
10. Lee JS, Wacholder S, Struewing JP, et al: Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 91:259-263, 1999 (Pubitemid 47241860)
11. Hamann U, Sinn HP: Survival and tumor characteristics of German hereditary breast cancer patients. Breast Cancer Res Treat 59:185-192, 2000
12. Eccles D, Simmonds P, Goddard J, et al: Familial breast cancer: An investigation into the outcome of treatment for early stage disease. Fam Cancer 1:65-72, 2001 (Pubitemid 38868140)
13. Goffin JR, Chappuis PO, Bégin LR, et al: Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data. Cancer 97:527-536, 2003
14. Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, et al: Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 43:867-876, 2007 (Pubitemid 32951806)
15. Rennert G, Bisland-Naggan S, Barnett-Griness O, et al: Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 357:115-123, 2007
16. Kriege M, Seynaeve C, Meijers-Heijboer H, et al: Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients. Breast Cancer Res Treat 111:303-311, 2008
17. Eerola H, Vahteristo P, Sarantaus L, et al: Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: A relative survival analysis from Finland. Int J Cancer 93:368-372, 2001
18. Goode EL, Dunning AM, Kuschel B, et al: Effect of germ-line genetic variation on breast cancer survival in a population-based study. Cancer Res 62:3052-3057, 2002
19. Bonadona V, Dussart-Moser S, Voirin N, et al: Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review. Breast Cancer Res Treat 101:233-245, 2007
20. Foulkes WD, Wong N, Brunet JS, et al: Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res 3:2465-2469, 1997 (Pubitemid 30649811)
21. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, et al: Familial invasive breast cancers: Worse outcome related to BRCA1 mutations. J Clin Oncol 18:4053-4059, 2000
22. Robson ME, Chappuis PO, Satagopan J, et al: A combined analysis of outcome following breast cancer: Differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6:R8-R17, 2004 (Pubitemid 32762077)
23. Moller P, Evans DG, Reis MM, et al: Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer 121:1017-1020, 2007
24. Ansquer Y, Gautier C, Fourquet A, et al: Survival in early-onset BRCA1 breast-cancer patients: Institut Curie Breast Cancer Group. Lancet 352:541, 1998 (Pubitemid 351186392)
25. Vinodkumar B, Syamala V, Abraham EK, et al: Germline BRCA1 mutation and survival analysis in familial breast cancer patients in Kerala, South India. J Exp Clin Cancer Res 26:329-336, 2007
26. Porter DE, Cohen BB, Wallace MR, et al: Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Br J Surg 81:1512-1515, 1994 (Pubitemid 27225293)
27. Verhoog LC, Brekelmans CT, Seynaeve C, et al: Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol 17:3396-3402, 1999
28. Loman N, Johannsson O, Bendahl P, et al: Prognosis and clinical presentation of BRCA2-associated breast cancer. Eur J Cancer 36:1365-1373, 2000 (Pubitemid 41079798)
29. Budroni M, Cesaraccio R, Coviello V, et al: Role of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia. BMC Cancer 9:62, 2009 (Pubitemid 27428107)
30. Kwiatkowska E, Teresiak M, Filas V, et al: BRCA2 mutations and androgen receptor expression as independent predictors of outcome of male breast cancer patients. Clin Cancer Res 9:4452-4459, 2003
31. Pierce LJ, Strawderman M, Narod SA, et al: Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 18:3360-3369, 2000
32. Robson M, Gilewski T, Haas B, et al: BRCA-associated breast cancer in young women. J Clin Oncol 16:1642-1649, 1998
33. El-Tamer M, Russo D, Troxel A, et al: Survival and recurrence after breast cancer in BRCA1/2 mutation carriers. Ann Surg Oncol 11:157-164, 2004
34. Seynaeve C, Verhoog LC, van de Bosch LM, et al: Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy. Eur J Cancer 40:1150-1158, 2004
35. Veronesi A, de Giacomi C, Magri MD, et al: Familial breast cancer: Characteristics and outcome of BRCA 1-2 positive and negative cases. BMC Cancer 5:70, 2005
36. Robson M, Levin D, Federici M, et al: Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 91:2112-2117, 1999
37. Chappuis PO, Kapusta L, Begin LR, et al: Germline BRCA1/2 mutations and p27(Kip1) protein levels independently predict outcome after breast cancer. J Clin Oncol 18:4045-4052, 2000
38. Pharoah PD, Easton DF, Stockton DL, et al: Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer United Kingdom Coordinating Committee for Cancer Res (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res 59:868-871, 1999 (Pubitemid 34498648)
39. Ramus SJ, Fishman A, Pharoah PD, et al: Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations. Eur J Surg Oncol 27:278-281, 2001
40. Buller RE, Shahin MS, Geisler JP, et al: Failure of BRCA1 dysfunction to alter ovarian cancer survival. Clin Cancer Res 8:1196-1202, 2002
41. Kringen P, Wang Y, Dumeaux V, et al: TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations: Relation to age at diagnosis and survival. BMC Cancer 5:134, 2005
42. Rubin SC, Benjamin I, Behbakht K, et al: Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 335:1413-1416, 1996 (Pubitemid 34694019)
43. Aida H, Takakuwa K, Nagata H, et al: Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1. Clin Cancer Res 4:235-240, 1998 (Pubitemid 34111382)
44. Majdak EJ, Debniak J, Milczek T, et al: Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma. Cancer 104:1004-1012, 2005
45. Pal T, Permuth-Wey J, Kapoor R, et al: Improved survival in BRCA2 carriers with ovarian cancer. Fam Cancer 6:113-119, 2007
46. Cass I, Baldwin RL, Varkey T, et al: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97:2187-2195, 2003
47. Tan DS, Rothermundt C, Thomas K, et al: "BRCAness" syndrome in ovarian cancer: A case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 26:5530-5536, 2008
48. Chetrit A, Hirsh-Yechezkel G, Ben-David Y, et al: Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: The national Israeli study of ovarian cancer. J Clin Oncol 26:20-25, 2008 (Pubitemid 15152511)
49. Zweemer RP, Verheijen RH, Coebergh JW, et al: Survival analysis in familial ovarian cancer, a case control study. Eur J Obstet Gynecol Reprod Biol 98:219-223, 2001
50. You JF, Hsieh LL, Changchien CR, et al: Inverse effects of mucin on survival of matched hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer patients. Clin Cancer Res 12:4244-4250, 2006
51. Albano WA, Recabaren JA, Lynch HT, et al: Natural history of hereditary cancer of the breast and colon. Cancer 50:360-363, 1982 (Pubitemid 19102603)
52. Fujita S, Moriya Y, Sugihara K, et al: Prognosis of hereditary nonpolyposis colorectal cancer (HNPCC) and the role of Japanese criteria for HNPCC. Jpn J Clin Oncol 26:351-355, 1996
53. Myrhoj T, Bisgaard ML, Bernstein I, et al: Hereditary non-polyposis colorectal cancer: Clinical features and survival - Results from the Danish HNPCC register. Scand J Gastroenterol 32:572-576, 1997 (Pubitemid 47293802)
54. Aarnio M, Mustonen H, Mecklin JP, et al: Prognosis of colorectal cancer varies in different high-risk conditions. Ann Med 30:75-80, 1998
55. Stigliano V, Assisi D, Cosimelli M, et al: Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients. J Exp Clin Cancer Res 27:39, 2008 (Pubitemid 38524696)
56. Haghighi MM, Vahedi M, Mohebbi SR, et al: Comparison of survival between patients with hereditary non polyposis colorectal cancer (HNPCC) and sporadic colorectal cancer. Asian Pac J Cancer Prev 10:209-212, 2009 (Pubitemid 41095034)
57. Percesepe A, Benatti P, Roncucci L, et al: Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer 71:373-376, 1997
58. Lin KM, Shashidharan M, Ternent CA, et al: Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 41:428-433, 1998 (Pubitemid 32155418)
59. Elsakov P, Kurtinaitis J: Survival from colorectal carcinoma in HNPCC families as compared to the general population in Lithuania: Initial results. Fam Cancer 5:369-371, 2006 (Pubitemid 29124362)
60. Watson P, Butzow R, Lynch HT, et al: The clinical features of ovarian cancer in hereditary non-polyposis colorectal cancer. Gynecol Oncol 82:223-228, 2001 (Pubitemid 47358145)
61. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, et al: Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer 4:301-305, 2005
62. Grindedal EM, Renkonen-Sinisalo LD, Vasen H, et al: Survival in women with MMR mutations and ovarian cancer: A multicentre study in Lynch syndrome kindreds. J Med Genet 47:99-102, 2010
63. Liebens FP, Carly B, Pastijn A, et al: Management of BRCA1/2 associated breast cancer: A systematic qualitative review of the state of knowledge in 2006. Eur J Cancer 43:238-257, 2007
64. Bordeleau L, Panchal S, Goodwin P: Prognosis of BRCA-associated breast cancer: A summary of evidence. Breast Cancer Res Treat 119:13-24, 2009
65. Boyd J, Sonoda Y, Federici MG, et al: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 283:2260-2265, 2000
66. Ben David Y, Chetrit A, Hirsh-Yechezkel G, et al: Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 20:463-466, 2002 (Pubitemid 24308343)
67. Leach FS, Nicolaides NC, Papadopoulos N, et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225, 1993
68. Papadopoulos N, Nicolaides NC, Wei YF, et al: Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625-1629, 1994 (Pubitemid 46273572)
69. Bronner CE, Baker SM, Morrison PT, et al: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 368:258-261, 1994
70. Nicolaides NC, Papadopoulos N, Liu B, et al: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80, 1994 (Pubitemid 46955124)
71. Sankila R, Aaltonen LA, Jarvinen HJ, et al: Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 110:682-687, 1996
72. Watson P, Lin KM, Rodriguez-Bigas MA, et al: Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer 83:259-266, 1998 (Pubitemid 30650356)
73. Bertario L, Russo A, Sala P, et al: Survival of patients with hereditary colorectal cancer: Comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer. Int J Cancer 80:183-187, 1999 (Pubitemid 39062922)
74. Barnetson RA, Tenesa A, Farrington SM, et al: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354:2751-2763, 2006
75. Goode EL, Ulrich CM, Potter JD: Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 11:1513-1530, 2002
76. Kirsch DG, Kastan MB: Tumor-suppressor p53: Implications for tumor development and prognosis. J Clin Oncol 16:3158-3168, 1998 (Pubitemid 47302473)
77. Bond GL, Levine AJ: A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans. Oncogene 26:1317-1323, 2007 (Pubitemid 29269242)
78. Heist RS, Zhou W, Chirieac LR, et al: MDM2 polymorphism, survival, and histology in early-stage non-small-cell lung cancer. J Clin Oncol 25:2243-2247, 2007 (Pubitemid 32112847)
79. Azzato EM, Tyrer J, Fasching PA, et al: Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. J Natl Cancer Inst 102:650-662, 2010
80. Van Ness B, Ramos C, Haznadar M, et al: Genomic variation in myeloma: Design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival. BMC Med 6:26, 2008 (Pubitemid 38298988)
81. Hunter K: Host genetics influence tumour metastasis. Nat Rev Cancer 6:141-146, 2006
82. Schwab M, Zanger UM, Marx C, et al: Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: A prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol 26:2131-2138, 2008
83. Johnson MR, Wang K, Diasio RB: Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 8:768-774, 2002
84. Ezzeldin HH, Lee AM, Mattison LK, et al: Methylation of the DPYD promoter: An alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. Clin Cancer Res 11:8699-8705, 2005
85. Pullarkat ST, Stoehlmacher J, Ghaderi V, et al: Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J 1:65-70, 2001
86. Iacopetta B, Grieu F, Joseph D, et al: A polymorphism in the enhancer region of the thymidylate synthase promoter influences the survival of colorectal cancer patients treated with 5-fluorouracil. Br J Cancer 85:827-830, 2001
87. Palomaki GE, Bradley LA, Douglas MP, et al: Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review. Genet Med 11:21-34, 2009
88. Toffoli G, Cecchin E, Corona G, et al: The role of UGT1A1*28 polymorphism in the pharmacodynamics and pharmacokinetics of irinotecan in patients with metastatic colorectal cancer. J Clin Oncol 24:3061-3068, 2006
89. 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 302:1429-1436, 2009
90. Nowell SA, Ahn J, Rae JM, 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 91:249-258, 2005
91. Wegman P, Vainikka L, Stal O, et al: Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients. Breast Cancer Res 7:R284-R290, 2005
92. Goetz M, Berry D, Klein T, et al: Adjuvant tamoxifen treatment outcome according to cytochrome P450 2D6 (CYP2D6) phenotype in early stage breast cancer: Findings from the International Tamoxifen Pharmacogenomics Consortium. Cancer Res 69, 2010 (suppl 24; abstr 33)
93. Schmiegelow K, Forestier E, Kristinsson J, et al: Thiopurine methyltransferase activity is related to the risk of relapse of childhood acute lymphoblastic leukemia: Results from the NOPHO ALL-92 study. Leukemia 23:557-564, 2009
94. Bibeau F, Lopez-Crapez E, Di Fiore F, et al: Impact of Fc{gamma}RIIa-Fc{gamma}RIIIa polymorphisms and KRAS mutations on the clinical outcome of patients with metastatic colorectal cancer treated with cetuximab plus irinotecan. J Clin Oncol 27:1122-1129, 2009
95. Musolino A, Naldi N, Bortesi B, et al: Immunoglobulin G fragment C receptor polymorphisms and clinical efficacy of trastuzumab-based therapy in patients with HER-2/neu-positive metastatic breast cancer. J Clin Oncol 26:1789-1796, 2008
96. Weng WK, Levy R: Two immunoglobulin G fragment C receptor polymorphisms independently predict response to rituximab in patients with follicular lymphoma. J Clin Oncol 21:3940-3947, 2003
97. Duell EJ, Wiencke JK, Cheng TJ, et al: Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis 21:965-971, 2000
98. Spitz MR, Wu X, Wang Y, et al: Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 61:1354-1357, 2001
99. Lunn RM, Helzlsouer KJ, Parshad R, et al: XPD polymorphisms: Effects on DNA repair proficiency. Carcinogenesis 21:551-555, 2000
100. Kim SO, Jeong JY, Kim MR, et al: Efficacy of gemcitabine in patients with non-small cell lung cancer according to promoter polymorphisms of the ribonucleotide reductase M1 gene. Clin Cancer Res 14:3083-3088, 2008
101. Liu G, Gurubhagavatula S, Zhou W, et al: Epidermal growth factor receptor polymorphisms and clinical outcomes in non-small-cell lung cancer patients treated with gefitinib. Pharmacogenomics J 8:129-138, 2008
102. Han SW, Jeon YK, Lee KH, et al: Intron 1 CA dinucleotide repeat polymorphism and mutations of epidermal growth factor receptor and gefitinib responsiveness in non-small-cell lung cancer. Pharmacogenet Genomics 17:313-319, 2007
103. Gregorc V, Hidalgo M, Spreafico A, et al: Germline polymorphisms in EGFR and survival in patients with lung cancer receiving gefitinib. Clin Pharmacol Ther 83:477-484, 2008
104. Heist RS, Christiani D: EGFR-targeted therapies in lung cancer: Predictors of response and toxicity. Pharmacogenomics 10:59-68, 2009
105. van Kuilenburg AB, Meinsma R, Zonnenberg BA, et al: Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 9:4363-4367, 2003
106. Morel A, Boisdron-Celle M, Fey L, et al: Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a lethal outcome following 5-fluorouracil administration and the determination of its frequency in a population of 500 patients with colorectal carcinoma. Clin Biochem 40:11-17, 2007
107. Henriette Tanja L, Guchelaar HJ, Gelderblom H: Pharmacogenetics in chemotherapy of colorectal cancer. Best Pract Res Clin Gastroenterol 23:257-273, 2009
108. Saltz LB, Cox JV, Blanke C, et al: Irinotecan plus fluorouracil and leucovorin for metastatic colorectal cancer: Irinotecan Study Group. N Engl J Med 343:905-914, 2000
109. Fuchs CS, Moore MR, Harker G, et al: Phase III comparison of two irinotecan dosing regimens in second-line therapy of metastatic colorectal cancer. J Clin Oncol 21:807-814, 2003
110. Innocenti F, Undevia SD, Iyer L, et al: Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 22:1382-1388, 2004
111. Goetz MP, Knox SK, Suman VJ, et al: The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat 101:113-121, 2007
112. Schroth W, Antoniadou L, Fritz P, et al: Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J Clin Oncol 25:5187-5193, 2007
113. Lim HS, Ju Lee H, Seok Lee K, et al: Clinical implications of CYP2D6 genotypes predictive of tamoxifen pharmacokinetics in metastatic breast cancer. J Clin Oncol 25:3837-3845, 2007
114. Jin Y, Desta Z, Stearns V, et al: CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. J Natl Cancer Inst 97:30-39, 2005
115. Wang L, Weinshilboum R: Thiopurine S-methyltransferase pharmacogenetics: Insights, challenges and future directions. Oncogene 25:1629-1638, 2006
116. Rocha JC, Cheng C, Liu W, et al: Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood 105:4752-4758, 2005
117. Relling MV, Pui CH, Cheng C, et al: Thiopurine methyltransferase in acute lymphoblastic leukemia. Blood 107:843-844, 2006
118. Koene HR, Kleijer M, Algra J, et al: Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype. Blood 90:1109-1114, 1997
119. Horgan AM, Yang B, John T, et al: Inherited genetic variation and lung cancer outcomes. J Thorac Oncol (in press)
120. Lanuti M, Liu G, Goodwin JM, et al: A functional epidermal growth factor (EGF) polymorphism, EGF serum levels, and esophageal adenocarcinoma risk and outcome. Clin Cancer Res 14:3216-3222, 2008
121. Zhang H, Ma G, Dong M, et al: Epidermal growth factor promotes invasiveness of pancreatic cancer cells through NF-kappaB-mediated proteinase productions. Pancreas 32:101-109, 2006
122. Rusch V, Baselga J, Cordon-Cardo C, et al: Differential expression of the epidermal growth factor receptor and its ligands in primary non-small cell lung cancers and adjacent benign lung. Cancer Res 53:2379-2385, 1993
123. Gebhardt F, Zanker KS, Brandt B: Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J Biol Chem 274:13176-13180, 1999
124. Nie Q, Wang Z, Zhang GC, et al: The epidermal growth factor receptor intron1 (CA) n microsatellite polymorphism is a potential predictor of treatment outcome in patients with advanced lung cancer treated with Gefitinib. Eur J Pharmacol 570:175-181, 2007
125. Cusatis G, Gregorc V, Li J, et al: Pharmacogenetics of ABCG2 and adverse reactions to gefitinib. J Natl Cancer Inst 98:1739-1742, 2006
126. Li X, He Y, Ruiz CH, et al: Characterization of dasatinib and its structural analogs as CYP3A4 mechanism-based inactivators and the proposed bioactivation pathways. Drug Metab Dispos 37:1242-1250, 2009