Ethnic differences in cancer risk resulting from genetic variation

Cancer

Volumn 86, Issue 8 SUPPL., 1999, Pages 1755-1762

  Neuhausen, Susan L ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Genetic Epidemiology Group   (United States)

Author keywords

BRCA1; BRCA2; Cancer risk estimates; Genetic variation; Germline mutations

Indexed keywords

BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CONFERENCE PAPER; ETHNIC DIFFERENCE; FAMILY HISTORY; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; GERM LINE; HUMAN; ONCOGENE; PRIORITY JOURNAL; RISK FACTOR;

EID: 0033570046     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0142(19991015)86:8+<1755::aid-cncr15>3.0.co;2-7     Document Type: Conference Paper

References (70)

1. American Cancer Society. Cancer facts and figures. Atlanta: American Cancer Society, 1998.
2. Kelsey JL, Gammon MD, John EM. Reproductive factors and breast cancer. Epidemiol Rev 1993;15:36-47.
3. Rosner B, Colditz GA, Willet WC. Reproductive risk factors in a prospective study of breast cancer. The Nurses Health Study. Am J Epidemiol 1994;139:819-35.
4. Kosary CL, Ries LAG, Miller BA, Hankey BF, Harras A, Edwards BK, editors. SEER Cancer Statistics Review, 1973-1992. Tables and Graphs. Bethesda: National Cancer Institute, 1995. NIH Pub. No. 96-2789.
5. Carter BS, Carter HB, Isaacs JT. Epidemiologic evidence regarding predisposing factors to prostate cancer. Prostate 1990;16:187-97.
6. Parkin DM, Pisani P, Ferlay J. Estimates of the worldwide incidence of 18 major cancers in 1985. Int J Cancer 1993;54: 594-606.
7. Whittemore AS. Trends in prostate cancer incidence and mortality. In: Cancer surveys. R Doll, JF Fraumeni, Muir CS, editors. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1994.
8. Morgan MS, Griffiths K, Blacklock N. The preventive role of diet in prostatic disease. Br J Urol 1996;77:481-93.
9. Pienta KJ, Esper PS. Risk factors for prostate cancer. Ann Intern Med 1993;118:793-803.
10. Whittemore AS, Wu AH, Kolonel LN, John EM, Gallagher RP, Howe GR, et al. Family history and prostate cancer risk in black, white, and asian men in the United States and Canada. Am J Epidemiol 1995;141:732-40.
11. Shibata A, Whittemore AS. Genetic predisposition to prostate cancer: possible explanations for ethnic differences in risk. Prostate 1997;32:65-72.
12. Ross R, Bernstein L, Judd H, Hanisch R, Pike M, Henderson B. Serum testosterone levels in healthy young black and white men. J Natl Cancer Inst 1986;76:45-8.
13. Ross RK, Bernstein L, Lobo RA, Shimizu H, Stanczyk FZ, Pike MC, et al. 5-alpha-reductase activity and risk of prostate cancer among Japanese and US white and black males. Lancet 1992;33:887-9.
14. Harris JR, Lippman ME, Veronesi U, Willett W. Breast cancer (1). N Engl J Med 1992;327:319-28.
15. Diamond JM, Rotter JI. Observing the founder effect in human evolution. Nature 1987;329:105-6.
16. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30: 857-65.
17. Motulsky AG. Jewish diseases and origins. Nat Genet 1995; 9:99-101.
18. Labuda D, Zietkiewicz E, Labuda M. The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim. Am J Hum Genet 1997;61:768-71.
19. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17: 79-83.
20. Nystrom-Lahti M, Wu Y, Moisio AL, Hofstra RMW, Osinga J, Mecklin JP, et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996;5:763-9.
21. Branch H, Kishida T, Glavac D, Chen F, Pausch F, Hofler H, et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 1995;95:551-6.
22. Gruis NA, Sandkuijl LA, vad der Velden PA, Bergman W, Frants RR. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 1995;5:169-77.
23. Szabo CI, King MC. Population genetics of BKCA1 and BRCA2. Am J Hum Genet 1997;60:1013-20.
24. Breast Cancer Information Core Database, http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/Member/index.html
25. Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast cancer information core. Hum Mutat 1996;8:8-18.
26. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994;8:392-8.
27. Johannsson O, Ostermeyer EA, Hakansson S, Friedman LS, Johansson U, Sellberg G, et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden. Am J Hum Genet 1996;58:441-50.
28. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, et al. A single mutation in the BRCA2 gene in male and female breast cancer families with varied cancer phenotypes. Nat Genet 1996;13:117-9.
29. Andersen TI, Borresen AL, Moller P. A common BRCA1 mutation in Norwegian breast and ovarian cancer families? Am J Hum Genet 1996;59:486-7.
30. Huusko P, Paakkonen K, Launnonen V, Poyhonen M, Blanco G, Kauppila A, et al. Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am J Hum Genet 1998; 1544-8.
31. Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997;60:1041-9.
32. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997;17:341-5.
33. Gayther SA, Harrington P, Russell P, Kharkevich G, Garkavtseva RF, Ponder BAJ. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am J Hum Genet 1997;60:1239-42.
34. Inoue R, Fukutomi T, Ushijima T, Matsumoto Y, Sugimura T, Nagao M. Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res 1995;55:3521-24.
35. Gao Q, Neuhausen S, Cummings S, Luce M, Olopade O. Recurrent germline BRCA1 mutations in extended African American families with early-onset breast cancer. Am J Hum Genet 1997;60:1233-6.
36. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200.
37. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, et al. BRCA1 in Ashkenazi Jewish women. Am J Hum Genet 1995;57:189.
38. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126-8.
39. Hakansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Gerdes AM, et al. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997;1068-78.
40. Claus EB, Risch NJ, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991;48:232-42.
41. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995;1457-62.
42. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997;60:1079-84.
43. Sigurdsson S, Thorlacius S, Tomasson J, Tryggvadottir L, Benediktsdottir K, Eyfjord JE, et al. BRCA2 mutation in Icelandic prostate cancer patients. J Mol Med 1997;75: 758-61.
44. Vehmanen P, Friedman LS, Eerola H, Sarantaus L, Pyrhonen S, Ponder BAJ, et al. A low proportion of BRCA2 mutations in Finnish breast cancer families. Am J Hum Genet 1997;60: 1050-58.
45. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-7.
46. Oddoux C, Struewing JP, Clayton M, Brody LC, Neuhausen S, Kaback M, et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996;14:188-90.
47. Offit K, Gilewski T, McGuire P, Schluger A, Brown K, Neuhausen S, et al. Germline BRCA1 185delAG mutations in Jewish women affected by breast cancer. Lancet 1996;347: 1643-5.
48. Tonin P, Weber B, Offit K, Couch F, Rebbeck T, Neuhausen S, et al. A high frequency of BRCA1 and BRCA2 mutations in 222 Ashkenazi Jewish breast cancer families. Nat Medicine 1996;2:1179-83.
49. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997;60:505-14.
50. Levy-Lahad E, Catane R, Eisenberg S, Kaufman B, Hornreich G, Lishinsky E, et al. Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families Am J Hum Genet 1997;60:1059-67.
51. Muto MG, Cramer DW, Tangir J, Berkowitz R, Mok S. Frequency of the BRCA1 185delAG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Res 1996;56:1250-2.
52. Egan KM, Newcomb PA, Longnecker MP, Trentham-Dietz A, Baron JA, Trichopoulos D, et al. Jewish religion and risk of breast cancer. Lancet 1996;347:1645-6.
53. Ramus SJ, Friedman LS, Gayther SA, Ponder BA, Bobrow L, van der Looij M, et al. Breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat Genet 1997;15:14-15.
54. Friedman E, Bar-Sade Bruchim R, Kruglikova A, Risel S, Levy-Lahad E, Halle D, et al. Double and compound heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998;63:1224-7.
55. Stolberg SG. Concern among Jews is heightened as scientists deepen gene studies. The New York Times. April 22, 1998: A24.
56. Wadman M. Jewish leaders meet NIH chiefs on genetic stigmatization fears. Nature 1998;392:851.
57. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996;77:2318-24.
58. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, et al. Sequence analysis of BRCA1 and BRCA2. correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998;16:2417-25.
59. FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, et al. Incidence of BRCA1 germline mutations in early onset breast cancer. N Engl J Med 1996;334:143-9.
60. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA. BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 1996;334:137-42
61. Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population. JAMA 1998;279:922-9.
62. Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 1998;279:915-21.
63. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopper J, Campeau L, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997;336:1409-15.
64. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. JAMA 1997; 278:1242-50.
65. Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997;89:227-38.
66. Parmigiani G, Berry DA, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998;62:145-58.
67. Friedman LS, Szabo CI, Ostermeyer EA, Down P, Butler L, Park T, et al. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 1995;15:1284-97.
68. Narod S, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 1995;56: 254-64.
69. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998;62:676-89.
70. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-8.