Segregation Analysis of 231 Ashkenazi Jewish Families for Evidence of Additional Breast Cancer Susceptibility Genes

Cancer Epidemiology Biomarkers and Prevention

Volumn 12, Issue 10, 2003, Pages 1045-1052

  Kaufman, David J ^a   Beaty, Terri H ^b   Struewing, Jeffery P ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BREAST CANCER; CANCER INCIDENCE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC MODEL; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HIGH RISK POPULATION; HUMAN; JEW; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JEWS; MIDDLE AGED; MODELS, GENETIC; PEDIGREE;

EID: 0142212208     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. American Cancer Society. Cancer facts and figures 2001. Atlanta, GA 2001.
2. Feuer, E. J., and Wen, L. M. DEVCAN: Probability of developing or dying of cancer, Version 4.0. Bethesda, MD: National Cancer Institute, 1999.
3. Collaborative Group on Hormonal Factors in Breast Cancer. 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, 2001.
4. Balmain, A., Gray, J., and Ponder, B. The genetics and genomics of cancer. Nat. Genet., 33(Suppl.): 238-244, 2003.
5. King, M. C. Breast cancer genes: how many, where and who are they? Nat. Genet., 2: 89-90, 1992.
6. Claus, E. B., Schildkraut, J. M., Thompson, W. D., and Risch, N. J. The genetic attributable risk of breast and ovarian cancer. Cancer (Phila.), 77: 2318-2324, 1996.
7. Easton, D. F., Bishop, D. T., Ford, D., and Crockford, G. P. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am. J. Hum. Genet., 52: 678-701, 1993.
8. Wooster, R., Neuhausen, S., Mangion, J., Quirk, Y., Ford, D., Collins, N., Nguyen, K., Seal, S., Tran, T., Averill, D., Fields, P., Marshall, G., Narod, S., Lenoir, G. M., Lynch, H., Feunteun, J., Devilee, P., Cornelisse, C. J., Menko, F. H., Daly, P. A., Ormiston, W., McManus, R., Pye, C., Lewis, C. M., Cannon-Albright, L. A., Peto, J., Ponder, A. J., Skolnick, M. H., Easton, D. F., Goldgar, D. E., and Stratton, M. R. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (Wash. DC), 265: 2088-2090, 1994.
9. Szabo, C. I., and King, M. C. Population genetics of BRCA1 and BRCA2. Am. J. Hum. Genet., 60: 1013-1020, 1997.
10. Rebbeck, T. R., Couch, F. J., Kant, J. Calzone, K., DeShano, M., Peng, Y., Chen, K., Garber, J. E., and Weber, B. L. Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am. J. Hum. Genet., 59: 547-553, 1996.
11. Schubert, E. L., Lee, M. K., Mefford, H. C., Argonza, R. H., Morrow, J. E., Hull, J., Dann, J. L., and King, M. C. BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. Am. J. Hum. Genet., 60: 1031-1040, 1997.
12. Serova, O. M., Mazoyer, S., Puget, N., Dubois, V., Tonin, P., Shugart, Y. Y., Goldgar, D., Narod, S. A., Lynch, H. T., and Lenoir, G. M. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am. J. Hum. Genet., 60: 486-495, 1997.
13. Seitz, S., Rohde, K., Bender, E., Nothnagel, A., Kolble, K., and Schlag, P. M. Strong indication for a breast cancer susceptibility gene on chromosome 8p12-22: linkage analysis in German breast cancer families. Oncogene, 14: 741-743, 1997.
14. Kainu, T., Juo, S. H., Desper, R., Schaffer, A. A., Gillanders, E., Rozenblum, E., Freas-Lutz, D., Weaver, D., Stephan, D., Bailey-Wilson, J., Kallioniemi, O. P., Tirkkonen, M., Syrjakoski, K., Kuukasjarvi, T., Koivisto, P., Karhu, R., Holli, K., Arason, A., Johannesdottir, G., Bergthorsson, J. T., Johannsdottir, H., Egilsson, V., Barkardottir, R. B., Johannsson, O., Haraldsson, K., Sandberg, T., Holmberg, E., Gronberg, H., Olsson, H., Borg, A., Vehmanen, P., Eerola, H., Heikkila, P., Pyrhonen, S., and Nevanlinna, H. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc. Natl. Acad. Sci. USA, 97: 9603-9608, 2000.
15. Claus, E. B., Risch, N., and Thompson, W. D. Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am. J. Hum. Genet., 48: 232-242, 1991.
16. Cui, J., Antoniou, A. C., Dite, G. S., Southey, M. C., Venter, D. J., Easton, D. F., Giles, G. G., McCredie, M. R., and Hopper, J. L. After BRCA1 and BRCA2 - what next? Multifactorial segregation analysis of three-generation, population based Australian families affected by female breast cancer. Am. J. Hum. Genet., 68: 420-431, 2001.
17. Struewing, J. P., Hartge, P. H., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., Timmerman, M. M., Brody, L. C., and Tucker, M. A. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med., 336: 1401-1408, 1997.
18. Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., Lingenfelter, B., Gumpper, K. L., Scholl, T., Tavtigian, S. V., Pruss, D. R., and Critchfield, D. C. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10, 000 individuals. J. Clin. Oncol., 20: 1480-1490, 2002.
19. Shattuck-Eidens, D., Oliphant, A., McClure, M., McBride, G., Gupte, J., Rubano, T., Pruss, D., Tavtigian, S. V., Teng, D. H. F., Adey, N., Staebell, M., Gumpper, K., Lundstron, R., Hulick, M., Kelly, M., Holmen, J., Lingenfelter, B., Manley, S., Fujimura, F., Luce, M., Ward, B., Cannon-Albright, L., Steele, L., Offit, K., Gilewski, T., Norton, L., Brown, K., Schulz, C., Hampel, H., Schulger, A., Giulotto, E., Zoli, W., Ravaioli, A., Nevanlinna, H., Pyrhonen, S., Rowley, P., Loader, S., Osborne, M. P., Daly, M., Tepler, I., Weinstein, P. L. Scalia, J. L., Michaelson, R., Scott, R. J., Radice, P., Pierotti, M. A., Garber, J. E., Issacs, C., Peshkin, B., Lippman, M. E., Dosik, M. H., Caligo, M. A., Greenstein, R. M., Pilarski, R., Weber, B., Burgemeister, R., Frank, T. S., Skolnick, M. H., and Thomas, A. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA, 278: 1242-1250, 1997.
20. Claus, E. B., Schildkraut, J., Iversen, E. S., Jr., Berry, D., and Parmigiani, G. Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J. Natl. Cancer. Inst., 90: 1824-1829, 1998.
21. Kaufman, D. J., and Struewing, J. P. Regarding the effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J. Natl. Cancer. Inst., 91: 1250-1251, 1999.
22. Bonney, G. Regressive logistic models for familial disease and other binary traits. Biometrics, 42: 611-625, 1986.
23. Go, R. C., King, M. C., Bailey-Wilson, J., Elston, R. C., and Lynch, H. T. Genetic epidemiology of breast cancer and associated cancers in high-risk families. I. Segregation analysis. J. Nat. Cancer. Inst., 71: 455-461, 1983.
24. Department of Epidemiology and Biostatistics, Case Western Reserve University. S. A. G. E. Statistical Analysis for Genetic Epidemiology, release 3.1, Cleveland, OH 1997.
25. Atwood, L. D., Kammerer, C. M., and Mitchell, B. D. Exploring the HDL likelihood surface. Genet. Epidemiol., 10: 641-645, 1993.
26. Hanson, R. L., Elston, R. C., Pettitt, D. J., Bennett, P. H., and Knowler, W. C. Segregation analysis of non insulin-dependent diabetes mellitus in Pima Indians: evidence for a major gene effect. Am. J. Hum. Genet., 57: 160-170, 1995.
27. Borecki, I. B., Province, M. A., and Rao, D. C. Inferring a major gene for quantitative traits by using segregation analysis with tests on transmission probabilities: how often do we miss? Am. J. Hum. Genet., 56: 319-326, 1995.
28. Cui, J., Hopper, J. L. Why are the majority of hereditary cases of early-onset breast cancer sporadic? A simulation study. Cancer Epidemiol. Biomark. Prev., 9: 805-812, 2000.
29. Hakansson, S., Johannsson, O., Johannsson, U., Sellberg, G., Loman, N., Gerdes, A. M., Holmberg, E., Dahl, N., Pandis, N., Kristoffersson, U., Olsson, H., and Borg, A. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am. J. Hum. Genet., 60: 1068-1078, 1997.
30. Love, R., Evans, A., and Josten, D. The accuracy of patient reports of a family history of cancer. J. Chronic Dis., 38: 289-293, 1985.
31. Bondy, M. L., Strom, S. S., Colopy, M. W., Brown, B. W., and Strong, L. C. Accuracy of family history of cancer obtained through interviews with relatives of patients with childhood sarcoma. J. Clin. Epidemiol., 47: 89-96, 1994.
32. Novakovi, B., Goldstein, A. M., and Tucker, M. A. Validation of family history of cancer in deceased family members. J. Natl. Cancer Inst., 88: 1492-1493, 1996.
33. Goldstein, A. M., Haile, R. W. C., Hodge, S. E. Paganini-Hill A., and Spence M. A. Possible heterogeneity in the segregation pattern of breast cancer in families with bilateral breast cancer. Genet. Epidemiol., 5: 121-133, 1988.
34. Goldstein, A. M., and Amos, C. L. Segregation analysis of breast cancer from the Cancer and Steroid Hormone Study: histologic subtypes. J. Natl. Cancer Inst., 82: 1911-1917, 1990.
35. Ciske, D. J., Rich, S. S., King, R. A., Elving Anderson, V., Bartow, S., Vachon, C., McGovern, P. G., Kushi, L. H., Zheng, W., and Sellers, T. A. Segregation analysis of breast cancer: a comparison of type-dependent age-at-onset versus type-dependent susceptibility models. Genet. Epidemiol., 13: 317-328, 1996.
36. Pankow, J. S., Vachon, C. M., Kuni, C. C., King, R. A., Arnett, D. K., Grabrick, D. M., Rich, S. S., Anderson, V. E., and Sellers, T. A. J. Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. Natl. Cancer Inst., 89: 531-533, 1997.
37. Antoniou, A. C., Pharoah, P. D. P., McMullan, G., Day, N. E., Ponder, B. A. J., and Easton, D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet. Epidemiol., 21: 1-18, 2001.
38. Khoury, M., Beaty, T. H., and Cohen, B. H. Fundamentals of Genetic Epidemiology, p. 305-306. Oxford: Oxford University Press, 1993.
39. Forsti, A., Soderberg, M., and Hemminki, K. Use of twins in search for tumor suppressor genes. Environ. Mol. Mutagen., 30: 231-239, 1997.
40. Hemminki, A., Tomlinson, I., Markie, D., Jarvinen, H., Sistonen, P., Bjorkqvist, A. M., Knuutila, S., Salovaara, R., Bodmer, W., Shibata, D., de la Chapelle, A., and Aaltonen, L. A. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat. Genet., 15: 87-90, 1997.