Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2

Cancer Epidemiology Biomarkers and Prevention

Volumn 8, Issue 9, 1999, Pages 741-747

  Hopper, John L ^a   Southey, Melissa C ^b   Dite, Gillian S ^a   Jolley, Damien J ^a   Giles, Graham G ^c   McCredie, Margaret R E ^d,e   Easton, Douglas F ^f   Venter, Deon J ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b PETER MACCALLUM CANCER CENTRE   (Australia)

^c CANCER EPIDEMIOLOGY CENTRE   (Australia)

^d CANCER RESEARCH DIVISION   (Australia)

^e UNIVERSITY OF OTAGO   (New Zealand)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGE DISTRIBUTION; ARTICLE; AUSTRALIA; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MUTATION; ONCOGENE; PRIORITY JOURNAL;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; AUSTRALIA; BRCA2 PROTEIN; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA PRIMERS; FEMALE; GENES, BRCA1; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LIKELIHOOD FUNCTIONS; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; TRANSCRIPTION FACTORS;

EID: 0032826284     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Eastern, D. F., Bishop, D. T., Ford, D., and Crockford, G. P. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet., 52: 678-701, 1993.
2. Ford, D., Easton, D. F., Bishop, D. T., Narod, S. A., and Goldgar, D. E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet, 343: 692-695, 1994.
3. Narod, S. A., Ford, D., Devilee, P., Barkardottir, R. B., Lynch, H. T., Smith, S. A., Ponder, B. A. J., Weber, B. L., Garber, J. E., Birch, J. M., Cornelis, R. S., Kelsell, D. P., Spurr, N. K., Smyth, E., Haites, N., Sobol, H., Bignon, Y-J., Chang-Claude, J., Hamann, U., Lindblom, A., Borg, A., Piver, M. S., Gallion, H. H., Struewing, J. P., Whittemore, A., Tonin, P., Goldgar, D. E., Easton, D. F., and the Breast Cancer Linkage Consortium. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. Hum. Genet., 56: 254-264, 1995.
4. Easton, D. F., Steele, L., Fields, P., Ormiston, W., Averill, D., Daly, P. A., McManus, R., Neuhausen, S. L., Ford, D., Wooster, R., Cannon-Albright, L. A., Stratton, M. R., and Goldgar, D. E. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am. J. Hum. Genet., 61: 120-128, 1997.
5. Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop, D. T., Weber, B., Lenoir, G., Chang-Claude, J., Sobol, H., Teare, M. D., Struewing, J., Arason, A., Scherneck, S., Peto, I., Rebbeck, T. R., Tonin, P., Neuhausen, S., Barkardottir, R., Eyfjord, J., Lynch, H., Ponder, B. A. J., Gayther, S. A., Birch, J. M., Lindblom, A., Stoppa-Lyonnet, D., Bignon, Y., Borg, A., Hamann, U., Haites, N., Scott, R. J., Maugard, C. M., Vasen, H., Seitz, S., Cannon-Albright, L. A., Schofield, A., Zelada-Hedman, M., and the Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet., 62: 676-689, 1998.
6. Hopper, J. L., Giles, G. G., McCredie, M. R. E., and Boyle, P. Background, rationale and protocol for a case-control-family study of breast cancer. Breast, 3: 79-86, 1994.
7. McCredie, M. R. E., Dite, G. S., Giles, G. G., and Hopper, J. L. Breast cancer in Australian women under the age of 40. Cancer Causes Control, 9: 189-198, 1998.
8. Southey, M. C., Batten, L. E., McCredie, M. R. E., Giles, G. G., Dite, G., Hopper, J. L., and Venter, D. J. Estrogen receptor polymorphism at codon 325 and risk of breast cancer before the age of 40. J. Natl. Cancer Inst., 90: 532-536, 1998.
9. Roest, P. A., Roberts, R. G., Sugino, S., van Ommen, G. J., and den Dunnen, J. T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Mol. Genet., 2: 1719-1721, 1993.
10. Simard, J., Tonin, P., Durocher, F., Morgan, K., Rommens, J., Gingras, S., Samson, C., Leblanc, J. F., Belanger, C., Dion, F., Liu, Q., Skolnick, M., Goldgar, D., Shattuck Eidens, D., Labrie, F., and Narod, S. A. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat. Genet., 8: 392-398, 1994.
11. Friedman, L. S., Ostermeyer, E. A., Szabo, C. I., Dowd, P., Lynch, E. D., Rowell, S. E., and King, M-C. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat. Genet., 8: 399-404, 1994.
12. Southey, M. C., Tesoriero, A. A., Andersen, C. R., Jennings, K. M., Brown, S. M., Dite, G. S., Jenkins, M. A., Osborne, R. H., Maskiell, J. A., Porter, L., Giles, G. G., McCredie, M. R. E., Hopper, J. L., and Venter, D. J. BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br. J. Cancer, 79: 34-39, 1999.
13. MathSoft. S-Plus 4. Guide to Statistics. Seattle: Data Analysis Products Division, MathSoft, 1997.
14. Lange, K., Boehnke, M., and Weeks, D. Programs for Pedigree Analysis. Los Angeles: Department of Biomathematics, University of California at Los Angeles, 1987.
15. Jeffs, P., Coates, M., Giles, G., Shugg, D., Threlfall, T., Roder, D., Ring, I., Shadbolt, B., and Condon, J. Cancer in Australia 1989-1990, Australian Institute of Health and Welfare, Cancer Series No. 5, p. 149. Canberra: Australian Government Publishing Service, 1996.
16. 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.
17. Ahlbom, A., and Norell, S. Introduction to Modern Epidemiology, pp. 33-34. Chestnut Hill, MA: Epidemiology Resources, 1990.
18. Becker, N. G. Analysis of Infectious Disease Data, p. 210. London: Chapman & Hall, 1989.
19. Mehta, C. R. The exact analysis of contingency tables in medical research. Cancer Treat. Res., 75: 177-202, 1995.
20. Peto, J., Collins, N., Barfoot, R., Seal, S., Warren, W., Rahman, N., Easton, D. F., Evans, C., Deacon, J., and Stratton, M. R. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J. Natl. Cancer Inst., 91: 943-949, 1999.
21. Thoracius, S., Struewing, J. P., Hartge, P., Olafsdottir, G. H., Sigvaldson, H., Tiyggvadottir, L., Wacholder, S., Tulinius, H., and Eyfjord, J. E. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet, 352: 1337-1339, 1998.
22. Fodor, F. H., Weston, A., Bleiweiss, I. J., McCurdy, L. D., Walsh, M. M., Tartter, P. I., Brower, S. T., and Eng, C. M. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am. J. Hum. Genet., 63: 45-51, 1998.
23. Gayther, S. A., Warren, W., Mazoyer, S., Russell, P. A., Harrington, P. A., Chiano, M., Seal, S., Hamoudi, R., Vanrensburg, E. J., Dunning, A. M., Love, R., Evans, G., Easton, D., Clayton, D., Stratton, M. R., and Ponder, B. A. J. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat. Genet., 11: 428-433, 1995.
24. Gayther, S. A., Mangion, J., Russell, P., Seal, S., Barfoot, R., Ponder, B. A. J., Stratton, M. R., and Easton, D. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat. Genet., 15: 103-105, 1997.
25. Stratton, J. F., Gayther, S. A., Russell, P., Dearden, J., Gore, M., Blake, P., Easton, D. F., and Ponder, B. A. J. Contribution of BRCA1 to ovarian cancer. N. Engl. J. Med., 336: 1125-1130, 1997.
26. Parker, D. M., Whelan, S. L., Ferlay, J., Raymond, L., and Young, J. (eds.). Cancer Incidence in Five Continents, Vol. 7, pp. 868-869. Lyon: IARC Scientific Publications, 1997.
27. Ford, D., Easton, D. F., and Peto, J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am. J. Hum. Genet., 57: 1457-1462, 1995.
28. Langston, A. A., Malone, K. E., Thompson, J. D., Daling, J. R., and Ostrander, E. A. BRCA1 mutations in a population-based sample of young women with breast cancer. N. Engl. J. Med., 334: 137-142, 1996.
29. Newman, B., Mu, H., Butler, L. M., Millikan, R. C., Moorman, P. G., and King, M-C. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. J. Am. Med. Assoc., 279: 915-921, 1998.
30. Szabo, C. I., and King, M-C. Population genetics of BRCA1 and BRCA2. Am. J. Hum. Genet., 60: 1013-1020, 1997.
31. Hopper, J. L. Genetic susceptibility to breast cancer. Cancer Forum, 21: 2-7, 1997.