Models of genetic susceptibility to breast cancer

Oncogene

Volumn 25, Issue 43, 2006, Pages 5898-5905

  Antoniou, A C ^a   Easton, D F ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Association; Genetic model; Linkage; Mathematical model; Polygenic inheritance; Twin studies

Indexed keywords

BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; FAMILY HISTORY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MODEL; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; MAMMOGRAPHY; MENOPAUSE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADULT; AGED; BREAST NEOPLASMS; CHILD; CHROMOSOME MAPPING; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MODELS, STATISTICAL; PEDIGREE; TWIN STUDIES;

EID: 33749002551     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/sj.onc.1209879     Document Type: Review

References (86)

1. Ahmed M, Rahman N. (2006). ATM and breast cancer susceptibility. Oncogene 25: 5906-5911.
2. Amos CI, Goldstein AM, Harris EL. (1991). Familiality of breast cancer and socioeconomic status in blacks. Cancer Res 51: 1793-1797.
3. Andrieu N, Goldgar D, Easton D, Rookus MA, Brohet R, Antoniou AC et al. (2006). Pregnancies, breastfeeding and breast cancer risk in the International BRCA1/2 carrier Cohort Study (IBCCS). J Natl Cancer Inst 98: 535-544.
4. Anglian Breast Cancer Study Group (2000). Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83: 1301-1308.
5. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL et al. (2003). 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 72: 1117-1130.
6. Antoniou AC, Durocher F, Smith P, Simard J, Easton DF. (2005). BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 8: R3.
7. Antoniou AC, Easton DF. (2006). Risk prediction models for familial breast cancer. Future Oncol 2: 257-274.
8. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J et al. (2002). A comprehensive modelfor familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86: 76-83.
9. Antoniou AC, Pharoah PP, Smith P, Easton DF. (2004). The BOADICEA modelof genetic susceptibility to breast and ovarian cancer. Br J Cancer 91: 1580-1590.
10. Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL et al. (2003). ATM variants 7271T > G and IVS10-6T > G among women with unilateral and bilateral breast cancer. Br J Cancer 89: 1513-1516.
11. Bishop DT, Cannon-Albright L, McLellan T, Gardner EJ, Skolnick MH. (1988). Segregation and linkage analysis of nine Utah breast cancer pedigrees. Genet Epidemiol 5: 151-169.
12. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ et al. (1998). Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128: 896-899.
13. Borresen AL, Andersen TI, Garber J, Barbier-Piraux N, Thorlacius S, Eyfjord J et al. (1992). Screening for germ line TP53 mutations in breast cancer patients. Cancer Res 52: 3234-3236.
14. Boyd NF, Byng JW, Jong RA, Fishell EK, Little LE, Miller AB et al. (1995). Quantitative classification of mammographic densities and breast cancer risk: results from the Canadian National Breast Screening Study. J Natl Cancer Inst 87: 670-675.
15. Boyd NF, Dite GS, Stone J, Gunasekara A, English DR, McCredie MR et al. (2002). Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med 347: 886-894.
16. Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ et al. (2005). Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol 6: 798-808.
17. Byrne C, Schairer C, Wolfe J, Parekh N, Salane M, Brinton LA et al. (1995). Mammographic features and breast cancer risk: effects with time, age, and menopause status. J Natl Cancer Inst 87: 1622-1629.
18. Canzian F, McKay JD, Cleveland RJ, Dossus L, Biessy C, Boillot C et al. (2005). Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. Cancer Epidemiol Biomarkers Prev 14: 2316-2325.
19. Cavaciuti E, Lauge A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D et al. (2005). Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chromosomes Cancer 42: 1-9.
20. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X et al. (2002). Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94: 205-215.
21. Claus EB, Risch N, Thompson WD. (1991). Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48: 232-242.
22. Collaborative Group in Hormonal Factors in Breast Cancer (2001). Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease. Lancet 358: 1389-1399.
23. Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, Easton DF et al. (2001). After BRCA1 and BRCA2 - what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 68: 420-431.
24. de Bruin JP, Bovenhuis H, van Noord PA, Pearson PL, van Arendonk JA, te Velde ER et al. (2001). The role of genetic factors in age at naturalmenopause. Hum Reprod 16: 2014-2018.
25. de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH et al. (2002). Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 39: 225-242.
26. Dunning AM, Dowsett M, Healey CS, Tee L, Luben RN, Folkerd E et al. (2004). Polymorphisms associated with circulating sex hormone levels in postmenopausal women. J Natl Cancer Inst 96: 936-945.
27. FitzGerald MG, Bean JM, Hegde SR, Unsal H, MacDonald DJ, Harkin DP et al. (1997). Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 15: 307-310.
28. Fletcher O, Gibson L, Johnson N, Altmann DR, Holly JM, Ashworth A et al. (2005). Polymorphisms and circulating levels in the insulin-like growth factor system and risk of breast cancer: a systematic review. Cancer Epidemiol Biomarkers Prev 14: 2-19.
29. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P et al. (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62: 676-689.
30. Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni Jr JF, Li FP. (1991). Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51: 6094-6097.
31. Harvey JA, Bovbjerg VE. (2004). Quantitative assessment of mammographic breast density: relationship with breast cancer risk. Radiology 230: 29-41.
32. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A et al. (1998). A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391: 184-187.
33. Hemminki K, Li X. (2002). Cancer risks in twins: results from the Swedish family-cancer database. Int J Cancer 99: 873-878.
34. Hong CC, Thompson HJ, Jiang C, Hammond GL, Tritchler D, Yaffe M et al. (2004). Association between the T27C polymorphism in the cytochrome P450 c17alpha (CYP17) gene and risk factors for breast cancer. Breast Cancer Res Treat 88: 217-230.
35. Hopper JL, Carlin JB. (1992). Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am J Epidemiol 136: 1138-1147.
36. Hunter DJ, de Lange M, Andrew T, Snieder H, MacGregor AJ, Spector TD. (2001). Genetic variation in bone mineral density and calcaneal ultrasound: a study of the influence of menopause using female twins. Osteoporos Int 12: 406-411.
37. Jaquish CE, Blangero J, Haffner SM, Stern MP, MacCluer JW. (1997). Quantitative genetics of serum sex hormone-binding globulin levels in participants in the San Antonio Family Heart Study. Metabolism 46: 988-991.
38. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R et al. (1998). Peutz-Jeghers syndrome is caused by mutations in a novelserine threonine kinase. Nat Genet 18: 38-43.
39. Kerangueven F, Essioux L, Dib A, Noguchi T, Allione F, Geneix J et al. (1995). Loss of heterozygosity and linkage analysis in breast carcinoma: indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 10: 1023-1026.
40. Key T, Appleby P, Barnes I, Reeves G. (2002). Endogenous sex hormones and breast cancer in postmenopausal women: reanalysis of nine prospective studies. J Natl Cancer Inst 94: 606-616.
41. Kok HS, van Asselt KM, van der Schouw YT, Peeters PH, Wijmenga C. (2005). Genetic studies to identify genes underlying menopausal age. Hum Reprod Update 11: 483-493.
42. Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P et al. (2003). Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361: 1101-1102.
43. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M et al. (2000). Environmentaland heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343: 78-85.
44. Mack TM, Hamilton AS, Press MF, Diep A, Rappaport EB. (2002). Heritable breast cancer in twins. Br J Cancer 87: 294-300.
45. Malkin D, Li FP, Strong LC, Fraumeni Jr JF, Nelson CE, Kim DH et al. (1990). Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250: 1233-1238.
46. Meijers-Heijboer H, van den OA, Klijn J, Wasielewski M, de Snoo A, Oldenburg R et al. (2002). Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59.
47. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71.
48. Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R et al. (2006). Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res 66: 1866-1872.
49. Mulhall C, Hegele RA, Cao H, Tritchler D, Yaffe M, Boyd NF. (2005). Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. Cancer Epidemiol Biomarkers Prev 14(Part 1): 2648-2654.
50. Murabito JM, Yang Q, Fox C, Wilson PW, Cupples LA. (2005). Heritability of age at natural menopause in the Framingham Heart Study. J Clin Endocrinol Metab 90: 3427-3430.
51. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den HB, Frants RR et al. (1996). Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13: 114-116.
52. Newman B, Austin MA, Lee M, King MC. (1988). Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci USA 85: 3044-3048.
53. Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, Kleinerman R et al. (2001). Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 93: 121-127.
54. Pankow JS, Vachon CM, Kuni CC, King RA, Arnett DK, Grabrick DM et al. (1997). Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst 89: 549-556.
55. Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ. (2006). Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet 38: 663-667.
56. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N et al. (1999). Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91: 943-949.
57. Peto J, Mack TM. (2000). High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 26: 411-414.
58. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. (2002). Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31: 33-36.
59. Pharoah PD, Dunning AM, Ponder BA, Easton DF. (2004). Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer 4: 850-860.
60. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE et al. (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346: 1616-1622.
61. Risch N. (2001). The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol Biomarkers Prev 10: 733-741.
62. Roberts SA, Spreadborough AR, Bulman B, Barber JB, Evans DG, Scott D. (1999). Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer? Am J Hum Genet 65: 784-794.
63. Seitz S, Rohde K, Bender E, Nothnagel A, Pidde H, Ullrich OM et al. (1997). Deletion mapping and linkage analysis provide strong indication for the involvement of the human chromosome region 8p12-p22 in breast carcinogenesis. Br J Cancer 76: 983-991.
64. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B et al. (1992). Inherited p53 gene mutations in breast cancer. Cancer Res 52: 2984-2986.
65. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B et al. (2006). A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 45: 646-655.
66. Snieder H, MacGregor AJ, Spector TD. (1998). Genes control the cessation of a woman's reproductive life: a twin study of hysterectomy and age at menopause. J Clin Endocrinol Metab 83: 1875-1880.
67. Stone J, Dite GS, Gunasekara A, English DR, McCredie MR, Giles GG et al. (2006). The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev 15: 612-617.
68. Swerdlow AJ, de Stavola BL, Swanwick MA, Maconochie NE. (1997). Risks of breast and testicular cancers in young adult twins in England and Wales: evidence on prenatal and genetic aetiology. Lancet 350: 1723-1728.
69. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. (1986). The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39: 573-583.
70. te Velde ER, Pearson PL. (2002). The variability of female reproductive ageing. Hum Reprod Update 8: 141-154.
71. The Breast Cancer Association Consortium (2006). Commonly studied SNPs and breast cancer: negative results from 12 000-32 000 cases and controls from the Breast Cancer Association Consortium. J Natl Cancer Inst (in press).
72. The Breast Cancer Linkage Consortium (1999). Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91: 1310-1316.
73. The CHEK2-Breast Cancer Consortium (2004). CHEK2* 1100delC and susceptibility to breast cancer: a collaborative analysis involving 10 860 breast cancer cases and 9065 controls from 10 studies. Am J Hum Genet 74: 1175-1182.
74. Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T et al. (2005a). Two ATM variants and breast cancer risk. Hum Mutat 25: 594-595.
75. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A et al. (2005b). Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97: 813-822.
76. Thompson D, Easton D. (2004). The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9: 221-236.
77. Thompson D, Easton DF. (2002). Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94: 1358-1365.
78. Treloar SA, Do KA, Martin NG. (1998). Genetic influences on the age at menopause. Lancet 352: 1084-1085.
79. Tyrer J, Duffy SW, Cuzick J. (2004). A breast cancer prediction modelincorporating familialand personal risk factors. Stat Med 23: 1111-1130.
80. Vaittinen P, Hemminki K. (2000). Risk factors and age-incidence relationships for contralateral breast cancer. Int J Cancer 88: 998-1002.
81. van Asselt KM, Kok HS, Pearson PL, Dubas JS, Peeters PH, te Velde ER et al. (2004). Heritability of menopausal age in mothers and daughters. Fertil Steril 82: 1348-1351.
82. van Duijnhoven FJ, Bezemer ID, Peeters PH, Roest M, Uitterlinden AG, Grobbee DE et al. (2005). Polymorphisms in the estrogen receptor alpha gene and mammographic density. Cancer Epidemiol Biomarkers Prev 14(Part 1): 2655-2660.
83. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J et al. (2006). Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295: 1379-1388.
84. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J et al. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792.
85. Ziv E, Shepherd J, Smith-Bindman R, Kerlikowske K. (2003). Mammographic breast density and family history of breast cancer. J Natl Cancer Inst 95: 556-558.
86. Ziv E, Tice J, Smith-Bindman R, Shepherd J, Cummings S, Kerlikowske K. (2004). Mammographic density and estrogen receptor status of breast cancer. Cancer Epidemiol Biomarkers Prev 13: 2090-2095.