Can genetic testing guide treatment in breast cancer?

European Journal of Cancer

Volumn 44, Issue 18, 2008, Pages 2774-2780

  Tutt, Andrew ^a   Ashworth, Alan ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

BRCA1; BRCA2; Prognosis; Screening; Therapy

Indexed keywords

AG 014699; ANTHRACYCLINE; ANTINEOPLASTIC AGENT; AZD 2281; BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; TAMOXIFEN; UNCLASSIFIED DRUG;

ARTICLE; BRCA2 GENE; BREAST CANCER; CANCER ADJUVANT THERAPY; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER PREVENTION; CANCER RADIOTHERAPY; CANCER RISK; CANCER SURVIVAL; CANCER THERAPY; COWDEN SYNDROME; CROSS LINKING; DNA REPAIR; DNA REPLICATION; EARLY DIAGNOSIS; FAMILIAL CANCER; GENE IDENTIFICATION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GERM LINE; HETEROZYGOTE DETECTION; HUMAN; MAMMOGRAPHY; ONCOGENE; ONCOGENE NEU; OVARIECTOMY; PRIORITY JOURNAL; PROTEIN FUNCTION; RISK BENEFIT ANALYSIS; RISK REDUCTION; SECONDARY PREVENTION;

BREAST NEOPLASMS; CHEMOPREVENTION; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MASS SCREENING; MUTATION; PROGNOSIS;

EID: 56949100951     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2008.10.009     Document Type: Article

References (63)

1. Easton D.F., Pooley K.A., Dunning A.M., et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447 (2007) 1087-1093
2. Antoniou A.C., and Easton D.F. Models of genetic susceptibility to breast cancer. Oncogene 25 (2006) 5898-5905
3. Ashworth A. Oh what a tangled web it weaves: BRCA1 and DNA decatenation. Cancer Cell 8 (2005) 95-97
4. Gudmundsdottir K., and Ashworth A. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 25 (2006) 5864-5874
5. Tutt A., and Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 8 (2002) 571-576
6. Santarosa M., and Ashworth A. Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way. Biochim Biophys Acta 1654 (2004) 105-122
7. Collins N., McManus R., Wooster R., et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 10 (1995) 1673-1675
8. Cornelis R.S., Neuhausen S.L., Johansson O., et al. High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium. Genes Chromosomes Cancer 13 (1995) 203-210
9. Merajver S.D., Frank T.S., Xu J., et al. Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. Clin Cancer Res 1 (1995) 539-544
10. Lakhani S.R., Gusterson B.A., Jacquemier J., et al. The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res 6 (2000) 782-789
11. Lakhani S.R., Van De Vijver M.J., Jacquemier J., et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20 (2002) 2310-2318
12. Lakhani S.R., Reis-Filho J.S., Fulford L., et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 11 (2005) 5175-5180
13. Foulkes W.D., Stefansson I.M., Chappuis P.O., et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95 (2003) 1482-1485
14. Sorlie T., Tibshirani R., Parker J., et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100 (2003) 8418-8423
15. Hosey A.M., Gorski J.J., Murray M.M., et al. Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer. J Natl Cancer Inst 99 (2007) 1683-1694
16. Kandel M.J., Stadler Z., Masciari S., et al. Prevalence of BRCA1 mutations in triple negative breast cancer (BC). J Clin Oncol (Meeting Abstracts) 24 (2006) 508
17. Bane A.L., Beck J.C., Bleiweiss I., et al. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 31 (2007) 121-128
18. Hartmann L.C., Sellers T.A., Schaid D.J., et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93 (2001) 1633-1637
19. Sardanelli F., Podo F., D'Agnolo G., et al. Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology 242 (2007) 698-715
20. Klijn JG. Mid-term efficacy of a breast cancer screening program for women with a familial or genetic susceptibility: update of the Dutch MRI screening study (MRISC). In: San Antonio breast cancer symposium; 2007 [Abstract 42].
21. Meijers-Heijboer H., van Geel B., van Putten W.L., et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345 (2001) 159-164
22. Rebbeck T.R., Friebel T., Lynch H.T., et al. Bilateral prophylactic astectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22 (2004) 1055-1062
23. Metcalfe K.A., Snyder C., Seidel J., et al. The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Fam Cancer 4 (2005) 97-103
24. Uyei A., Peterson S.K., Erlichman J., et al. Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: a single-institution study. Cancer 107 (2006) 2745-2751
25. Phillips K.A., Jenkins M.A., Lindeman G.J., et al. Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Clin Genet 70 (2006) 198-206
26. Rebbeck T.R., Friebel T., Wagner T., et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 23 (2005) 7804-7810
27. Eisen A., Lubinski J., Klijn J., et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 23 (2005) 7491-7496
28. King M.C., Wieand S., Hale K., et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. Jama 286 (2001) 2251-2256
29. Gronwald J., Tung N., Foulkes W.D., et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118 (2006) 2281-2284
30. Pierce L.J., Levin A.M., Rebbeck T.R., et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 24 (2006) 2437-2443
31. Liebens F.P., 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 (2007) 238-257
32. Moller P., Evans D.G., Reis M.M., et al. Surveillance for familial breast cancer: differences in outcome according to BRCA mutation status. Int J Cancer 121 (2007) 1017-1020
33. 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 (2007) 115-123
34. Foulkes W.D., Metcalfe K., Hanna W., et al. Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma. Cancer 98 (2003) 1569-1577
35. Rodriguez-Pinilla S.M., Sarrio D., Honrado E., et al. Prognostic significance of basal-like phenotype and fascin expression in node-negative invasive breast carcinomas. Clin Cancer Res 12 (2006) 1533-1539
36. Rouzier R., Perou C.M., Symmans W.F., et al. Breast cancer molecular subtypes respond differently to preoperative chemotherapy. Clin Cancer Res 11 (2005) 5678-5685
37. Shanley S., McReynolds K., Ardern-Jones A., et al. Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom. Clin Cancer Res 12 (2006) 7033-7038
38. Rakha E.A., El-Sayed M.E., Green A.R., et al. Prognostic markers in triple-negative breast cancer. Cancer 109 (2007) 25-32
39. Tutt A.N., van Oostrom C.T., Ross G.M., et al. Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation. EMBO Rep 3 (2002) 255-260
40. Shanley S., McReynolds K., Ardern-Jones A., et al. Late toxicity is not increased in BRCA1/BRCA2 mutation carriers undergoing breast radiotherapy in the United Kingdom. Clin Cancer Res 12 (2006) 7025-7032
41. Moynahan M.E., Cui T.Y., and Jasin M. Homology-directed DNA repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res 61 (2001) 4842-4850
42. Tutt A., Bertwistle D., Valentine J., et al. Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences. Embo J 20 (2001) 4704-4716
43. Bhattacharyya A., Ear U.S., Koller B.H., 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 275 (2000) 23899-23903
44. Howlett N.G., Taniguchi T., Olson S., et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297 (2002) 606-609
45. Kennedy R.D., Quinn J.E., Mullan P.B., et al. The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 96 (2004) 1659-1668
46. Byrski T., Gronwald J., Huzarski T., et al. Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 108 (2008) 289-296
47. Zhou C., Smith J.L., and Liu J. Role of BRCA1 in cellular resistance to paclitaxel and ionizing radiation in an ovarian cancer cell line carrying a defective BRCA1. Oncogene 22 (2003) 2396-2404
48. Farmer H., McCabe N., Lord C.J., et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434 (2005) 917-921
49. Bryant H.E., Schultz N., Thomas H.D., et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 434 (2005) 913-917
50. McCabe N., Turner N.C., Lord C.J., et al. Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 66 (2006) 8109-8115
51. McCabe N., Lord C.J., Tutt A.N., et al. BRCA2-deficient CAPAN-1 cells are extremely sensitive to the inhibition of Poly (ADP-Ribose) polymerase: an issue of potency. Cancer Biol Ther 4 (2005) 934-936
52. Hay T., Jenkins H., Sansom O.J., et al. Efficient deletion of normal Brca2-deficient intestinal epithelium by poly(ADP-ribose) polymerase inhibition models potential prophylactic therapy. Cancer Res 65 (2005) 10145-10148
53. Rottenberg S., Nygren A.O., Pajic M., et al. Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer. Proc Natl Acad Sci USA 104 (2007) 12117-12122
54. De Soto J.A., Wang X., Tominaga Y., et al. The inhibition and treatment of breast cancer with poly (ADP-ribose) polymerase (PARP-1) inhibitors. Int J Biol Sci 2 (2006) 179-185
55. Gallmeier E., and Kern S.E. Absence of specific cell killing of the BRCA2-deficient human cancer cell line CAPAN1 by poly(ADP-ribose) polymerase inhibition. Cancer Biol Ther 4 (2005) 703-706
56. Edwards S.L., Brough R., and Lord C.J. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 451 (2008) 1111-1115
57. Yap T.A., Boss D.S., Fong P.C., et al. First in human phase I pharmacokinetic (PK) and pharmacodynamic (PD) study of KU-0059436 (Ku), a small molecule inhibitor of poly ADP-ribose polymerase (PARP) in cancer patients (p), including BRCA1/2 mutation carriers. J Clin Oncol 25 (2007) 3529 [Abstract]
58. Johnson N., Fletcher O., Palles C., et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 16 (2007) 1051-1057
59. Turner N.C., and Reis-Filho J.S. Basal-like breast cancer and the BRCA1 phenotype. Oncogene 25 (2006) 5846-5853
60. Matros E., Wang Z.C., Lodeiro G., et al. BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles. Breast Cancer Res Treat 91 (2005) 179-186
61. Turner N.C., Reis-Filho J.S., Russell A.M., et al. BRCA1 dysfunction in sporadic basal-like breast cancer. Oncogene 26 (2007) 2126-2132
62. Abd El-Rehim D.M., Ball G., Pinder S.E., et al. High-throughput protein expression analysis using tissue microarray technology of a large well-characterised series identifies biologically distinct classes of breast cancer confirming recent cDNA expression analyses. Int J Cancer 116 (2005) 340-350
63. Richardson A.L., Wang Z.C., De Nicolo A., et al. X chromosomal abnormalities in basal-like human breast cancer. Cancer Cell 9 (2006) 121-132