Breast Cancer Risk Modifiers

Hereditary Breast Cancer

Volumn , Issue , 2007, Pages 207-232

  Milne, Roger ^a   Chenevix Trench, Georgia ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 72449197415     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.3109/9781420020366-16     Document Type: Chapter

References (107)

1. Easton DF et al. “Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.” Am J Hum Genet 1995; 56(1):265-271.
2. Ford D et al. “Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.” Am J Hum Genet 1998; 62(3):676-689.
3. Antoniou A 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(5):1117-1130.
4. Simchoni S et al. “Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.” Proc Natl Acad Sci U S A 2006; 103(10):3770-3774.
5. Evans D et al. “The trouble with phenocopies: are those testing negative for a family BRCA1/2 really at population risk?" Am J Hum Genet 2005, Abstract 71.
6. Narod SA, Foulkes WD. “BRCA1 and BRCA2: 1994 and beyond.” Nat Rev Cancer 2004; 4(9):665-676.
7. King MC et al. “Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.” Science 2003; 302(5645):643-646.
8. Narod S et al. “Increasing incidence of breast cancer in family with BRCA1 mutation.” Lancet 1993; 341(8852):1101-1102.
9. Tryggvadottir L et al. “Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000.” J Natl Cancer Inst 2006; 98(2):116-122.
10. Narod SA. “Modifiers of risk of hereditary breast and ovarian cancer.” Nat Rev Cancer 2002; 2(2):113-123.
11. Narod SA et al. “Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study.” Lancet Oncol 2006; 7(5):402-406.
12. Narod SA et al. “Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.” J Natl Cancer Inst 2002; 94(23):1773-1779.
13. Goldgar D et al. “The International BRCA1/2 Carrier Cohort Study Collaborators Group: The International BRCA1/2 Carrier Cohort Study: purpose, rationale, and study design.” Breast Cancer Res 2000; 2:E010.
14. www.cceb.med.upenn.edu/PROSE.
15. http://epi.grants.cancer.gov/CFR/about_breast.html.
16. kConFab, www.kconfab.org.
17. Haile RW et al. “BRCA1 and BRCA2 mutation carriers, oral contraceptive use and breast cancer before age 50.” Cancer Epidemiol Biomarkers Prev 2006; 15(10):1863-1870.
18. Antoniou AC et al. “A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes.” Genet Epidemiol 2005; 29(1):1-11.
19. Kelsey JL et al. “Reproductive factors and breast cancer.” Epidemiol Rev 1993; 15(1): 36-47.
20. Collaborative Group on Hormonal Factors in Breast Cancer. “Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50, 302 women with breast cancer and 96, 973 women without the disease.” Lancet 2002; 360(9328):187-195.
21. Lambe M et al. “Transient increase in the risk of breast cancer after giving birth.” N Engl J Med 1994; 331(1):5-9.
22. Becher H et al. “Reproductive factors and familial predisposition for breast cancer by age 50 years. A case-control-family study for assessing main effects and possible gene-environment interaction.” Int J Epidemiol 2003; 32(1):38-48.
23. Hartge P et al. “Breast cancer risk in Ashkenazi BRCA1/2 mutation carriers: effects of reproductive history.” Epidemiology 2002; 13(3):255-261.
24. Jernstrom HC et al. “Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2.” Lancet 1999; 354(9193):1846-1850.
25. Tryggvadottir L et al. “BRCA2 mutation carriers, reproductive factors and breast cancer risk.” Breast Cancer Res 2003; 5(5):R121-R128.
26. Cullinane CA et al. “Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.” Int J Cancer 2005; 117(6):988-991.
27. Gronwald J et al. “Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland.” Breast Cancer Res Treat 2006; 95(2):105-109.
28. Andrieu N et al. “Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS).” J Natl Cancer Inst 2006; 98(8):535-544.
29. Rebbeck TR et al. “Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history.” Cancer Res 2001; 61(14):5420-5424.
30. Beral V et al. “Breast cancer and abortion: collaborative reanalysis of data from 53 epidemiological studies, including 83, 000 women with breast cancer from 16 countries.” Lancet 2004; 363(9414):1007-1016.
31. Friedman E et al. “Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.” Breast Cancer Res 2006; 8(2):7.
32. Jernstrom H et al. “Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.” J Natl Cancer Inst 2004; 96(14):1094-1098.
33. Collaborative Group on Hormonal Factors in Breast Cancer. “Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53, 297 women with breast cancer and 100, 239 women without breast cancer from 54 epidemiological studies. Collaborative Group on Hormonal Factors in Breast Cancer.” Lancet 1996; 347(9017): 1713-1727.
34. Marchbanks PA et al. “Oral contraceptives and the risk of breast cancer.” N Engl J Med 2002; 346(26):2025-2032.
35. McGuire V et al. “Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations.” Am J Epidemiol 2004; 160(7): 613-618.
36. Narod SA et al. “Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group.” N Engl J Med 1998; 339(7):424-428.
37. Whittemore AS et al. “Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations.” Br J Cancer 2004; 91(11):1911-1915.
38. Collaborative Group on Hormonal Factors in Breast Cancer. “Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52, 705 women with breast cancer and 108, 411 women without breast cancer. Collaborative Group on Hormonal Factors in Breast Cancer.” Lancet 1997; 350(9084):1047-1059.
39. Kotsopoulos J et al. “Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.” Gynecol Oncol 2006; 100(1):83-88.
40. Hanf V, Gonder U. “Nutrition and primary prevention of breast cancer: foods, nutrients and breast cancer risk.” Eur J Obstet Gynecol Reprod Biol 2005; 123(2):139-149.
41. McTiernan A. “Behavioral risk factors in breast cancer: can risk be modified?" Oncologist 2003; 8(4):326-334.
42. Nkondjock A, Ghadirian P. “Epidemiology of breast cancer among BRCA mutation carriers: an overview.” Cancer Lett 2004; 205(1):1-8.
43. Hamajima N et al. “Alcohol, tobacco and breast cancer-collaborative reanalysis of individual data from 53 epidemiological studies, including 58, 515 women with breast cancer and 95, 067 women without the disease.” Br J Cancer 2002; 87(11):1234-1245.
44. McGuire V et al. “No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations under age 50 years.” Cancer Epidemiol Biomarkers Prev 2006; 15:1565-1567.
45. Brunet JS et al. “Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes.” J Natl Cancer Inst 1998; 90(10):761-766.
46. Ghadirian P et al. “Smoking and the risk of breast cancer among carriers of BRCA mutations.” Int J Cancer 2004; 110(3):413-416.
47. Hopper JL, Baron JA. “Re: oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.” J Natl Cancer Inst 2003; 95(13):1010-1011; author reply 1012-1013.
48. Colilla S et al. “The joint effect of smoking and AIB1 on breast cancer risk in BRCA1 mutation carriers.” Carcinogenesis 2006; 27(3):599-605.
49. van den Brandt PA et al. “Pooled analysis of prospective cohort studies on height, weight, and breast cancer risk.” Am J Epidemiol 2000; 152(6):514-527.
50. Kotsopoulos J et al. “Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.” Breast Cancer Res 2005; 7(5):R833-R843.
51. Ron E. “Cancer risks from medical radiation.” Health Phys 2003; 85(1):47-59.
52. Friedenson B. “Is mammography indicated for women with defective BRCA genes? Implications of recent scientific advances for the diagnosis, treatment, and prevention of hereditary breast cancer.” MedGenMed 2000; 2(1):E9.
53. Breast cancer association consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the breast cancer association consortium. J Natl Cancer Inst 2006 Oct 4; 98(19):1382-96.
54. Andrieu N et al. “Effect of chest X-Rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study.” J Clin Oncol 2006; 24: 3361-3366.
55. Bernstein L et al. “Ethnicity-related variation in breast cancer risk factors.” Cancer 2003; 97 (1 suppl):222-229.
56. Boyd NF et al. “Mammographic breast density as an intermediate phenotype for breast cancer.” Lancet Oncol 2005; 6(10):798-808.
57. Kotsopoulos J et al. “Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.” Cancer Causes Control 2005; 16(6):667-674.
58. Mitchell G et al. “Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers.” Cancer Res 2006; 66(3):1866-1872.
59. Pharoah PD et al. “Association studies for finding cancer-susceptibility genetic variants.” Nat Rev Cancer 2004; 4(11):850-860.
60. Nathanson KL et al. “CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q.” Hum Mol Genet 2002; 11(11):1327-1332.
61. Hirschhorn JN, Daly MJ. “Genome-wide association studies for common diseases and complex traits.” Nat Rev Genet 2005; 6(2):95-108.
62. Giguere Y et al. “Short polyglutamine tracts in the androgen receptor are protective against breast cancer in the general population.” Cancer Res 2001; 61(15):5869-5874.
63. Haiman CA et al. “The androgen receptor CAG repeat polymorphism and risk of breast cancer in the Nurses’ Health Study.” Cancer Res 2002; 62(4):1045-1049.
64. Modugno F. “Ovarian cancer and polymorphisms in the androgen and progesterone receptor genes: a HuGE review.” Am J Epidemiol 2004; 159(4):319-335.
65. Spurdle AB et al. “The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.” Breast Cancer Res 2005; 7(2): R176-R183.
66. Suter NM et al. “Androgen receptor (CAG)n and (GGC)n polymorphisms and breast cancer risk in a population-based case-control study of young women.” Cancer Epidemiol Biomarkers Prev 2003; 12(2):127-135.
67. Zeegers MP et al. “How strong is the association between CAG and GGN repeat length polymorphisms in the androgen receptor gene and prostate cancer risk?" Cancer Epidemiol Biomarkers Prev 2004; 13(11 Pt 1):1765-1771.
68. Rebbeck TR et al. “Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.” Am J Hum Genet 1999; 64(5):1371-1377.
69. Kadouri L et al. “CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers.” Br J Cancer 2001; 85(1): 36-40.
70. Dagan E et al. “Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.” Eur J Hum Genet 2002; 10(11):724-728.
71. Kim SC et al. “CAG repeat length in exon 1 of the androgen receptor gene is related to age of diagnosis but not germ line BRCA1 mutation status in ovarian cancer.” Int J Gynecol Cancer 2006; 16(suppl 1):190-194.
72. Menin C et al. “Lack of association between androgen receptor CAG polymorphism and familial breast/ovarian cancer.” Cancer Lett 2001; 168(1):31-36.
73. Irvine RA et al. “Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine length.” Hum Mol Genet 2000; 9(2):267-274.
74. Kadouri L et al. “Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers.” Int J Cancer 2004; 108(3):399-403.
75. Hughes DJ et al. “Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.” Int J Cancer 2005; 117(2):230-233.
76. Spurdle AB et al. “The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.” Cancer Epidemiol Biomarkers Prev 2006; 15(1): 76-79.
77. Thomas M et al. “Two polymorphic variants of wild-type p53 differ biochemically and biologically.” Mol Cell Biol 1999; 19(2):1092-1100.
78. Wang-Gohrke S et al. “Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations.” Br J Cancer 1999; 81(1):179-183.
79. Osorio A et al. “A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers.” Hum Mutat 2006; 27(3):242-248.
80. Karran P. “DNA double strand break repair in mammalian cells.” Curr Opin Genet Dev 2000; 10(2):144-150.
81. Scully R et al. “Association of BRCA1 with Rad51 in mitotic and meiotic cells.” Cell 1997; 88(2):265-275.
82. Wong AK et al. “RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene BRCA2.” J Biol Chem 1997; 272(51):31941-31944.
83. Shu Z et al. “Disruption of muREC2/RAD51L1 in mice results in early embryonic lethality which can Be partially rescued in a p53(-/-) background.” Mol Cell Biol 1999; 19(12): 8686-8693.
84. Levy-Lahad E et al. “A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.” Proc Natl Acad Sci USA 2001; 98(6):3232-3236.
85. Wang WW et al. “A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.” Cancer Epidemiol Biomarkers Prev 2001; 10(9):955-960.
86. Kadouri L et al. “A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers.” Br J Cancer 2004; 90(10):2002-2005.
87. Jakubowska A et al. “Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland.” Cancer Epidemiol Biomarkers Prev 2003; 12(5):457-459.
88. Phelan CM et al. “Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus.” Nat Genet 1996; 12(3):309-311.
89. Weitzel JN et al. “The HRAS1 minisatellite locus and risk of ovarian cancer.” Cancer Res 2000; 60(2):259-261.
90. Runnebaum IB et al. “Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives.” Pharmacogenetics 2001; 11(7):635-638.
91. Pearce CL et al. “Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.” J Natl Cancer Inst 2005; 97(1):51-59.
92. Gershoni-Baruch R et al. “Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women.” Eur J Cancer 2000; 36(18): 2313-2316.
93. Ginolhac SM et al. “BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations.” Cancer Epidemiol Biomarkers Prev 2003; 12(2):90-95.
94. Hughes DJ et al. “Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers.” Cancer Epidemiol Biomarkers Prev 2005; 14(1):265-267.
95. Auranen A et al. “BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk.” Int J Cancer 2003; 103(3):427-430.
96. Healey CS et al. “A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.” Nat Genet 2000; 26(3):362-364.
97. Spurdle AB et al. “The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.” Cancer Epidemiol Biomarkers Prev 2002; 11(4): 413-416.
98. Consortium T. B. C. A. “Commonly studies SNPs and breast cancer: negative results from 12, 000-32, 000 cases and controls from the Breast Cancer Association Consortium.” J Natl Cancer Inst 2006. In press.
99. Stacey SN et al. “The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland.” PLoS Med 2006; 3(7):e217.
100. Vahteristo P et al. “BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.” Eur J Hum Genet 2006; 14(2):167-172.
101. Savelyeva L et al. “An interstitial tandem duplication of 9p23-24 coexists with a mutation in the BRCA2 gene in the germ line of three brothers with breast cancer.” Cancer Res 1998; 58 (5):863-866.
102. Savelyeva L et al. “Constitutional genomic instability with inversions, duplications, and amplifications in 9p23-24 in BRCA2 mutation carriers.” Cancer Res 2001; 61(13): 5179-5185.
103. Lakhani SR et al. “Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.” J Natl Cancer Inst 1998; 90(15): 1138-1145.
104. Lakhani SR et al. “Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype.” Clin Cancer Res 2005; 11(14):5175-5180.
105. Antill Y et al. “Risk-reducing surgery in women with familial susceptibility for breast and/or ovarian cancer.” Eur J Cancer 2006; 42(5):621-628.
106. Calderon-Margalit R, Paltiel O. “Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature.” Int J Cancer 2004; 112(3):357-364.
107. U.S. Preventive Services Task Force. “Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement.” Ann Intern Med 2005; 143(5):355-361.