deCODE BreastCancer™
The first test measuring genetic risk of the common forms of breast cancer. Complements standard risk modeling tools. More complete assessment of risk and more personalized and effective screening, prevention and treatment.
Better screening & prevention
How can deCODE BreastCancer™ help?
Comprehensive risk assessment
deCODE BreastCancer™ detects genetic risk that is independent of and complementary to the risk factors used in standard clinical risk assessment tools. The results are presented as a numerical value of individual risk relative to the population average, by which the scores of traditional risk modeling tools can be multiplied.
Informing prophylactic therapy
Approximately 14% of women of European descent aged 55 and older who take the deCODE BreastCancer™ test will receive a score placing them at or above a 1.7% absolute risk of developing breast cancer within the following five years. This is the threshold used by the American Society of Clinical Oncology for consideration of the use of tamoxifen (or similar drugs) as preventive therapy. deCODE BreastCancer™ also provides information on whether a woman is more likely to develop estrogen-positive or estrogen-negative breast cancer.
Modification of BRCA-associated risk
The risk conferred by four of the SNPs detected by the deCODE BreastCancer™ test interacts in a multiplicative manner with that conferred by the highly penetrant mutations in the BRCA1 and BRCA2 genes. The results can thereby indicate increased lifetime risk in women positive for the BRCA1 or BRCA2 gene mutations.
References
1. Thomas, Gilles et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009 May;41(5):579-84. Epub 2009 Mar 29. PMID: 19330030.
2. Stacey, Simon N et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007 Jul;39(7):865-9. Epub 2007 May 27. PMID: 17529974.
3. Zheng, Wei et al. Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev. 2009 Oct;18(10):2761-4. Epub 2009 Sep 29. PMID: 19789366
4. Reeves, Gillian K et al. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA. 2010 Jul 28;304(4):426-34. PMID: 20664043
5. Milne, Roger L et al. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. Epub 2009 Jun 30. PMID: 19567422:http://www.ncbi.nlm.nih.gov/pubmed/19567422
6. Cox, Angela et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet. 2007 Mar;39(3):352-8. Epub 2007 Feb 11. PMID:17293864
7. Sergentanis, Theodoros N, Economopoulos, Konstantinos P. Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010 Feb;120(1):229-34. Epub 2009 Jul 24. PMID: 19629679
8. Ahmed, Shahana et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009 May;41(5):585-90. Epub 2009 Mar 29. PMID: 19330027
9. Long, Jirong et al. Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev. 2010 Sep;19(9):2357-65. Epub 2010 Aug 10. PMID: 20699374
10. Easton, Douglas F et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007 Jun 28;447(7148):1087-93. PMID: 17529967
11. Zheng, Wei et al. Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. J Natl Cancer Inst. 2010 Jul 7;102(13):972-81. Epub 2010 May 18. PMID: 20484103
12. Antoniou, Antonis C et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008 Apr;82(4):937-48. Epub 2008 Mar 20. PMID: 18355772
13. Travis, Ruth C et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010 Jun 19;375(9732):2143-51. Epub 2010 Jun 3. PMID: 20605201
14. Stacey, Simon N et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008 Jun;40(6):703-6. Epub 2008 Apr 27. PMID: 18438407
15. Ruiz-Narvaez, Edward A et al. Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women’s Health Study. Breast Cancer Res Treat. 2010 Sep;123(2):525-30. Epub 2010 Feb 7. PMID: 20140701
16. Garcia-Closas, Montserrat et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 2008 Apr 25;4(4):e1000054. PMID: 18437204
17. Fletcher, Olivia et al. Association of genetic variants at 8q24 with breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):702-5. PMID: 18349290
18. Mcinerney, Niall et al. Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat. 2009 Sep;117(1):151-9. Epub 2008 Nov 13. PMID: 19005751
19. Hunter, David J et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007 Jul;39(7):870-4. Epub 2007 May 27. PMID: 17529973
20. Zheng, Wei et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet. 2009 Mar;41(3):324-8. Epub 2009 Feb 15. PMID: 19219042
21. Rebbeck, Timothy R et al. Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Carcinogenesis. 2009 Feb;30(2):269-74. Epub 2008 Nov 20. PMID: 19028704
22. Zhang J et al. Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010 Mar 19. PMID: 20300826
23. Jia C et al. Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer. Breast Cancer Res Treat. 2010 Apr 4. PMID: 20364400
24. Boyarskikh, Uljana A et al. Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia. Eur J Hum Genet. 2009 Dec;17(12):1688-91. Epub 2009 Jun 17. PMID: 19536173
25. Antoniou, Antonis C et al. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. Epub 2009 Aug 5. PMID: 19656774
26. Chen MB et al. Association between polymorphisms of trinucleotide repeat containing 9 gene and breast cancer risk: evidence from 62,005 subjects. Breast Cancer Res Treat. 2010 Aug 12. PMID: 20703937
27. Stacey, Simon N et al. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet. 2010 Jul 22;6(7):e1001029. PMID: 20661439
28. Turnbull, Clare et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010 Jun; 42(6):504-7. PMID: 20453838
29. Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH (1994). Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 86: 1600–1608.
30. Montserrat Garcia-Closas et al. Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics. PLoS Genet. 2008 Apr 25;4(4):e1000054.
31. Gillian K. Reeves; Ruth C. Travis; Jane Green; et al. Incidence of Breast Cancer and Its Subtypes in Relation to Individual and Multiple Low-Penetrance Genetic Susceptibility Loci JAMA. 2010;304(4):426-434
32. Wacholder et al. Performance of Common Genetic Variants in Breast-Cancer Risk Models. N Engl J Med 2010;362:986-93.
33. Matthew E. Mealiffe ME et al. Clinical Validity Assessment of a Breast Cancer Risk Model Combining Genetic and Clinical Information. http://precedings.nature.com/documents/4295/version/1
34. McGuigan KA, Ganz PA, Breant C. Agreement between breast cancer risk estimation methods. J Natl Cancer Inst. 1996 Sep 18;88(18):1315-7.
35. McTiernan A et al. Comparisons of two breast cancer risk estimates in women with a family history of breast cancer. Cancer Epidemiol Biomarkers Prev. 2001 Apr;10(4):333-8.
36. Claus EB,Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991 Feb;48(2):232-42.
37. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998 Jan;62(1):145-58. et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 2006;8(1):R12.
38. Mann et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 2006;8(1):R12.
39. Antoniou AC et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008 Apr 22;98(8):1457-66.
40. Evans DG, Howell A. Breast cancer risk-assessment models. Breast Cancer Res. 2007;9(5):213.
41. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 Feb 1;73(3):643-51.
42. Antoniou 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 May;72(5):1117-30. Epub 2003 Apr 3.
43. Evans DG, Lalloo F. Risk assessment and management of high risk familial breast cancer. J Med Genet. 2002 Dec;39(12):865-71. PMID: 12471197
44. Travis RC, Reeves GK, Green J, Bull D, Tipper SJ, Baker K, Beral V, Peto R, Bell J, Zelenika D, Lathrop M; Million Women Study Collaborators. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010 Jun 19;375(9732):2143-51. Epub 2010 Jun 3. PMID: 20605201
45. Mealiffe ME, Stokowski RP, Rhees BK, Prentice RL, Pettinger M, Hinds DA. Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. J Natl Cancer Inst. 2010 Nov 3;102(21):1618-27. Epub 2010 Oct 18. PMID: 20956782 Combining Genetic and Clinical Information