Moving toward personalized medicine: Treatment-focused genetic testing of women newly diagnosed with ovarian cancer

International Journal of Gynecological Cancer

Volumn 20, Issue 5, 2010, Pages 704-716

  Trainer, Alison H ^a,b,c   Meiser, Bettina ^c,d   Watts, Kaaren ^c,d   Mitchell, Gillian ^a   Tucker, Kathy ^d   Friedlander, Michael ^c,d  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b MONASH MEDICAL CENTRE   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d PRINCE OF WALES HOSPITAL   (Australia)

Author keywords

BRCA1; BRCA2; Ovarian cancer; PARP inhibitor; Prognosis; Treatment focused genetic testing

Indexed keywords

BIOLOGICAL MARKER; BRCA1 PROTEIN; BRCA2 PROTEIN; BUTADIENE DIEPOXIDE; CARBOPLATIN; CISPLATIN; CYCLOPHOSPHAMIDE; DOXORUBICIN; MITOMYCIN C; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; PACLITAXEL; TAXANE DERIVATIVE;

ALOPECIA; BEHAVIOR; CANCER DIAGNOSIS; CANCER SURVIVAL; CHEMOSENSITIVITY; CLINICAL DECISION MAKING; CLINICAL TRIAL; DEMETHYLATION; DNA METHYLATION; DNA REPAIR; DRUG MEGADOSE; ETHNICITY; FAMILY HISTORY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE MUTATION; GENETIC SCREENING; GERM LINE; HUMAN; MUTATION RATE; OVARY CANCER; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROGNOSIS; PROMOTER REGION; REVIEW;

ANTINEOPLASTIC AGENTS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; INDIVIDUALIZED MEDICINE; MIDDLE AGED; OVARIAN NEOPLASMS;

EID: 77956858334     PISSN: 1048891X     EISSN: None     Source Type: Journal    
DOI: 10.1111/IGC.0b013e3181dbd1a5     Document Type: Review

References (104)

1. Tan W, Stehman FB, Carter RL. Mortality rates due to gynecologic cancers in New York state by demographic factors and proximity to a Gynecologic Oncology Group member treatment center: 1979Y2001. Gynecol Oncol. 2009;114:346Y352.
2. Seidman JD, Horkayne-Szakaly I, Haiba M, et al. The histologic type and stage distribution of ovarian carcinomas of surface epithelial origin. Int J Gynecol Pathol. 2004;23:41Y44.
3. Sankaranarayanan R, Ferlay J. Worldwide burden of gynaecological cancer: The size of the problem. Best Pract Res Clin Obstet Gynaecol. 2006;20:207Y225.
4. Bewtra C, Watson P, Conway T, et al. Hereditary ovarian cancer: A clinicopathological study. Int J Gynecol Pathol. 1992;11:180Y187.
5. Narod SA, Madlensky L, Bradley L, et al. Hereditary and familial ovarian cancer in southern Ontario. Cancer. 1994;74:2341Y2346.
6. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003;72:1117Y1130.
7. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329Y1333.
8. Woodward ER, Sleightholme HV, Considine AM, et al. Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high-risk and population risk women is ineffective. BJOG. 2007;114:1500Y1509.
9. Gaarenstroom KN, van der Hiel B, Tollenaar RA, et al. Efficacy of screening women at high risk of hereditary ovarian cancer: Results of an 11-year cohort study. Int J Gynecol Cancer. 2006;16:54Y59.
10. Kauff ND, Satagopan JM, Robson ME, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002;346:1609Y1615.
11. Kauff ND, Domchek SM, Friebel TM, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: A multicenter, prospective study. J Clin Oncol. 2008;26:1331Y1337.
12. Finch A, Beiner M, Lubinski J, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA. 2006;296:185Y192.
13. 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. 2008;26:20Y25.
14. Tan DS, Rothermundt C, Thomas K, et al. BBRCAness[ 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. 2008;26:5530Y5536.
15. Kauff ND. Is It time to stratify for BRCA mutation status in therapeutic trials in ovarian cancer? J Clin Oncol. 2008;26:9Y10.
16. Anton-Culver H, Cohen PF, Gildea ME, et al. Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. Eur J Cancer. 2000; 36:1200Y1208.
17. Bjorge T, Lie AK, Hovig E, et al. BRCA1 mutations in ovarian cancer and borderline tumours in Norway: A nested case-control study. Br J Cancer. 2004;91:1829Y1834.
18. Elit L, Baigal G, Jack E, et al. Risk factors for ovarian cancer and early-onset breast cancer in Mongolia. Eur J Gynaecol Oncol. 2002;23:397Y400.
19. Janezic SA, Ziogas A, Krumroy LM, et al. Germline BRCA1 alterations in a population-based series of ovarian cancer cases. Hum Mol Genet. 1999;8:889Y897.
20. Khoo US, Chan KY, Cheung AN, et al. Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population. Hum Mutat. 2002;19:307Y308.
21. Khoo US, Ngan HY, Cheung AN, et al. Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Hum Mutat. 2000;16:88Y89.
22. Liede A, Malik IA, Aziz Z, et al. Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet. 2002;71:595Y606.
23. Majdak EJ, De Bock GH, Brozek I, et al. Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer casesVpreliminary report. Eur J Cancer. 2005;41:143Y150.
24. Malander S, Ridderheim M, Masback A, et al. One in 10 ovarian cancer patients carry germline BRCA1 or BRCA2 mutations: Results of a prospective study in Southern Sweden. Eur J Cancer. 2004;40:422Y428.
25. Matsushima M, Kobayashi K, Emi M, et al. Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: Four germline mutations, but no evidence of somatic mutation. Hum Mol Genet. 1995;4:1953Y1956.
26. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104:2807Y2816.
27. Pegoraro RJ, Moodley M, Rom L, et al. P53 codon 72 polymorphism and BRCA 1 and 2 mutations in ovarian epithelial malignancies in black South Africans. Int J Gynecol Cancer. 2003;13:444Y449.
28. Rafnar T, Benediktsdottir KR, Eldon BJ, et al. BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: A population-based study. Eur J Cancer. 2004;40:2788Y2793.
29. Risch HA, McLaughlin JR, Cole DE, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 2006;98:1694Y1706.
30. Rubin SC, Blackwood MA, Bandera C, et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: Relationship to family history and implications for genetic testing. Am J Obstet Gynecol. 1998;178:670Y677.
31. Sarantaus L, Vahteristo P, Bloom E, et al. BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. Eur J Hum Genet. 2001;9:424Y430.
32. Smith SA, Richards WE, Caito K, et al. BRCA1 germline mutations and polymorphisms in a clinic-based series of ovarian cancer cases: A Gynecologic Oncology Group study. Gynecol Oncol. 2001;83:586Y592.
33. Soegaard M, Kjaer SK, Cox M, et al. BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark. Clin Cancer Res. 2008;14:3761Y3767.
34. Stratton JF, Gayther SA, Russell P, et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 1997;336:1125Y1130.
35. Tonin PN, Mes-Masson AM, Narod SA, et al. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Clin Genet. 1999;55:318Y324.
36. Yamashita Y, Sagawa T, Fujimoto T, et al. BRCA1 mutation testing for Japanese patients with ovarian cancer in breast cancer screening. Breast Cancer Res Treat. 1999;58:11Y17.
37. Yazici H, Glendon G, Burnie SJ, et al. BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: A high incidence of mutations in non-familial cases. Hum Mutat. 2002;20:28Y34.
38. Takahashi H, Chiu HC, Bandera CA, et al. Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res. 1996;56:2738Y2741.
39. Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions. Br J Cancer. 2008;98:1457Y1466.
40. Berry DA, Iversen ES Jr, Gudbjartsson DF, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20:2701Y2712.
41. Evans DG, Lalloo F, Wallace A, et al. Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet. 2005;42:e39.
42. American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol. 2003;21:2397Y2406.
43. Hartge P, Struewing JP, Wacholder S, et al. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet. 1999;64:963Y970.
44. Hirsh-Yechezkel G, Chetrit A, Lubin F, et al. Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in Israel. Gynecol Oncol. 2003;89:494Y498.
45. Bahar AY, Taylor PJ, Andrews L, et al. The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: Implications for the generality of U.S. population data. Cancer. 2001;92:440Y445.
46. Beller U, Halle D, Catane R, et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol. 1997;67:123Y126.
47. Gorski B, Jakubowska A, Huzarski T, et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer. 2004;110:683Y686.
48. Neuhausen SL. Ethnic differences in cancer risk resulting from genetic variation. Cancer. 1999;86:2575Y2582.
49. Verhoog LC, van den Ouweland AM, Berns E, et al. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer. 2001;37:2082Y2090.
50. Dubeau L. The cell of origin of ovarian epithelial tumours. Lancet Oncol. 2008;9:1191Y1197.
51. Levine DA, Argenta PA, Yee CJ, et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 2003;21:4222Y4227.
52. Aziz S, Kuperstein G, Rosen B, et al. A genetic epidemiological study of carcinoma of the fallopian tube. Gynecol Oncol. 2001;80:341Y345.
53. Knudson AG Jr. Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68:820Y823.
54. Menkiszak J, Gronwald J, Gorski B, et al. Hereditary ovarian cancer in Poland. Int J Cancer. 2003;106:942Y945.
55. Gilks CB, Prat J. Ovarian carcinoma pathology and genetics: Recent advances. Human Pathol. 2009;40:1213Y1223.
56. Domanska K, Malander S, Masback A, et al. Ovarian cancer at young age: The contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. Int J Gynecol Cancer. 2007;17:789Y793.
57. Moslehi R, Chu W, Karlan B, et al. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet. 2000;66:1259Y1272.
58. Watson P, Lieberman R, Snyder C, et al. Detecting BRCA2 protein truncation in tissue biopsies to identify breast cancers that arise in BRCA2 gene mutation carriers. J Clin Oncol. 2009;27:3894Y3900.
59. Jasin M. Homologous repair of DNA damage and tumorigenesis: The BRCA connection. Oncogene. 2002;21: 8981Y8993.
60. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002; 297:606Y609.
61. Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev. 2007;8:735Y748.
62. Evers B, Drost R, Schut E, et al. Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin. Clin Cancer Res. 2008;14:3916Y3925.
63. Bhattacharyya A, Ear US, Koller BH, et al. The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J Biol Chem. 2000;275:23899Y23903.
64. Quinn JE, James CR, Stewart GE, et al. BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy. Clin Cancer Res. 2007;13: 7413Y7420.
65. du Bois A, Quinn M, Thigpen T, et al. 2004 Consensus statements on the management of ovarian cancer: Final document of the 3rd International Gynecologic Cancer Intergroup Ovarian Cancer Consensus Conference (GCIG OCCC 2004). Ann Oncol. 2005;16:viii7Yviii12.
66. McGuire WP, Hoskins WJ, Brady MF, et al. Cyclophosphamide and cisplatin compared with paclitaxel and cisplatin in patients with stage III and stage IV ovarian cancer. N Engl J Med. 1996;334:1Y6.
67. Piccart MJ, Bertelsen K, James K, et al. Randomized intergroup trial of cisplatin-paclitaxel versus cisplatin-cyclophosphamide in women with advanced epithelial ovarian cancer: Three-year results. J Nat Cancer Inst. 2000;92:699Y708.
68. du Bois A, Luck HJ, Meier W, et al. A randomized clinical trial of cisplatin/paclitaxel versus carboplatin/paclitaxel as first-line treatment of ovarian cancer. J Nat Cancer Inst. 2003;95:1320Y1329.
69. Neijt JP, Engelholm SA, Tuxen MK, et al. Exploratory phase III study of paclitaxel and cisplatin versus paclitaxel and carboplatin in advanced ovarian cancer. J Clin Oncol. 2000;18:3084Y3092.
70. Ozols RF, Bundy BN, Greer BE, et al. Phase III trial of carboplatin and paclitaxel compared with cisplatin and paclitaxel in patients with optimally resected stage III ovarian cancer: A Gynecologic Oncology Group study. J Clin Oncol. 2003;21:3194Y3200.
71. Muggia FM, Braly PS, Brady MF, et al. Phase III randomized study of cisplatin versus paclitaxel versus cisplatin and paclitaxel in patients with suboptimal stage III or IV ovarian cancer: A gynecologic oncology group study. J Clin Oncol. 2000;18:106Y115.
72. International Collaborative Ovarian NeoplasmGroup. Paclitaxel plus carboplatin versus standard chemotherapy with either single-agent carboplatin or cyclophosphamide, doxorubicin, and cisplatin in women with ovarian cancer: The ICON3 randomised trial. Lancet. 2002;360:505Y515.
73. Sandercock J, Parmar MK, Torri V, et al. First-line treatment for advanced ovarian cancer: Paclitaxel, platinum and the evidence. Br J Cancer. 2002;87:815Y824.
74. Cuppone F, Bria E, Carlini P, et al. Taxanes as primary chemotherapy for early breast cancer: Meta-analysis of randomized trials. Cancer. 2008;113:238Y246.
75. Lee H, Trainer AH, Friedman LS, et al. Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2. Molecular cell. 1999; 4:1Y10.
76. Kartalou M, Essigmann JM. Mechanisms of resistance to cisplatin. Mutat Res. 2001;478:23Y43.
77. Sakai W, Swisher EM, Karlan BY, et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature. 2008;451:1116Y1120.
78. Edwards SL, Brough R, Lord CJ, et al. Resistance to therapy caused by intragenic deletion in BRCA2. Nature. 2008; 451:1111Y1115.
79. Parmar MK, Ledermann JA, Colombo N, et al. Paclitaxel plus platinum-based chemotherapy versus conventional platinum-based chemotherapy in women with relapsed ovarian cancer: The ICON4/AGO-OVAR-2.2 trial. Lancet. 2003;361:2099Y2106.
80. Stordal B, Pavlakis N, Davey R. A systematic review of platinum and taxane resistance from bench to clinic: An inverse relationship. Cancer Treat Rev. 2007;33:688Y703.
81. Ratnam K, Low JA. Current development of clinical inhibitors of poly(ADP-ribose) polymerase in oncology. Clin Cancer Res. 2007;13:1383Y1388.
82. Farmer H, McCabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434:917Y921.
83. Fong PC, Boss DS, Yap TA, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123Y134.
84. Audeh MW. Phase II trial of the oral PARP inhibitor olaparib (AZD2281) in BRCA-deficient advanced ovarian cancer. ASCO2009.
85. NCT00494234. Study to assess the efficacy and safety of a PARP inhibitor for the treatment of BRCA-positive advanced breast cancer.
86. NCT00647062. AZD2281 and carboplatin in treating patients with BRCA1/BRCA2-associated or hereditary metastatic or unresectable breast and/or ovarian cancer.
87. NCT00679783. Phase II study of AZD2281 in known BRCA or recurrent high grade ovarian cancer or known BRCA/triple neg breast cancer.
88. Boyd J, Rubin SC. Hereditary ovarian cancer: Molecular genetics and clinical implications. Gynecol Oncol. 1997;64:196Y206.
89. Cass I, Baldwin RL, Varkey T, et al. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer. 2003;97:2187Y2195.
90. 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. 1998;4:235Y240.
91. 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. 2002;20:463Y466.
92. Orth K, Hung J, Gazdar A, et al. Genetic instability in human ovarian cancer cell lines. Proc Natl Acad Sci U S A. 1994;91:9495Y9499.
93. Esteller M, Silva JM, Dominguez G, et al. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Nat Cancer Inst. 2000;92: 564Y569.
94. Baldwin RL, Nemeth E, Tran H, et al. BRCA1 promoter region hypermethylation in ovarian carcinoma: A population-based study. Cancer Res. 2000;60:5329Y5333.
95. Geisler JP, Hatterman-Zogg MA, Rathe JA, et al. Frequency of BRCA1 dysfunction in ovarian cancer. J Nat Cancer Inst. 2002;94:61Y67.
96. Taniguchi T, Tischkowitz M, Ameziane N, et al. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med. 2003;9:568Y574.
97. Hughes-Davies L, Huntsman D, Ruas M, et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell. 2003;115:523Y535.
98. Schlich-Bakker KJ, ten Kroode HF, Ausems MG. A literature review of the psychological impact of genetic testing on breast cancer patients. Patient Educ Couns. 2006; 62:13Y20.
99. Meiser B. Psychological impact of genetic testing for cancer susceptibility: An update of the literature. Psychooncology. 2005;14:1060Y1074.
100. van Roosmalen MS, Stalmeier PF, Verhoef LC, et al. Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet. 2004;124A: 346Y355.
101. Bonadona V, Saltel P, Desseigne F, et al. Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: Reactions and behavior after the disclosure of a positive test result. Cancer Epidemiol Biomarkers Prev. 2002;11:97Y104.
102. Meiser B, Tucker K, Friedlander M, et al. Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: A review of the existing literature and a proposed research agenda. Breast Cancer Res. 2008;10:216.
103. Schwartz MD, Lerman C, Brogan B, et al. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004;22: 1823Y1829.
104. Schlich-Bakker KJ, Ausems MG, Schipper M, et al. BRCA1/2 mutation testing in breast cancer patients: A prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Brest Cancer Res Treat. 2008;109:507Y514.