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. 1999 Apr;64(4):943–948. doi: 10.1086/302350

BRCA1 and BRCA2 testing: weighing the demand against the benefits.

P Devilee
PMCID: PMC1377818  PMID: 10090879

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abeliovich D., Kaduri L., Lerer I., Weinberg N., Amir G., Sagi M., Zlotogora J., Heching N., Peretz T. 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 Mar;60(3):505–514. [PMC free article] [PubMed] [Google Scholar]
  2. Brunet J. S., Ghadirian P., Rebbeck T. R., Lerman C., Garber J. E., Tonin P. N., Abrahamson J., Foulkes W. D., Daly M., Wagner-Costalas J. Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J Natl Cancer Inst. 1998 May 20;90(10):761–766. doi: 10.1093/jnci/90.10.761. [DOI] [PubMed] [Google Scholar]
  3. Collins F. S. BRCA1--lots of mutations, lots of dilemmas. N Engl J Med. 1996 Jan 18;334(3):186–188. doi: 10.1056/NEJM199601183340311. [DOI] [PubMed] [Google Scholar]
  4. Couch F. J., DeShano M. L., Blackwood M. A., Calzone K., Stopfer J., Campeau L., Ganguly A., Rebbeck T., Weber B. L. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997 May 15;336(20):1409–1415. doi: 10.1056/NEJM199705153362002. [DOI] [PubMed] [Google Scholar]
  5. Easton D. F., Ford D., Bishop D. T. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 Jan;56(1):265–271. [PMC free article] [PubMed] [Google Scholar]
  6. FitzGerald M. G., MacDonald D. J., Krainer M., Hoover I., O'Neil E., Unsal H., Silva-Arrieto S., Finkelstein D. M., Beer-Romero P., Englert C. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med. 1996 Jan 18;334(3):143–149. doi: 10.1056/NEJM199601183340302. [DOI] [PubMed] [Google Scholar]
  7. Fodor F. H., Weston A., Bleiweiss I. J., McCurdy L. D., Walsh M. M., Tartter P. I., Brower S. T., Eng C. M. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet. 1998 Jul;63(1):45–51. doi: 10.1086/301903. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Ford D., Easton D. F., Bishop D. T., Narod S. A., Goldgar D. E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692–695. doi: 10.1016/s0140-6736(94)91578-4. [DOI] [PubMed] [Google Scholar]
  9. Ford D., Easton D. F., Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995 Dec;57(6):1457–1462. [PMC free article] [PubMed] [Google Scholar]
  10. Ford D., Easton D. F., Stratton M., Narod S., Goldgar D., Devilee P., Bishop D. T., Weber B., Lenoir G., Chang-Claude J. 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 Mar;62(3):676–689. doi: 10.1086/301749. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Gayther S. A., Mangion J., Russell P., Seal S., Barfoot R., Ponder B. A., Stratton M. R., Easton D. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997 Jan;15(1):103–105. doi: 10.1038/ng0197-103. [DOI] [PubMed] [Google Scholar]
  12. Gayther S. A., Warren W., Mazoyer S., Russell P. A., Harrington P. A., Chiano M., Seal S., Hamoudi R., van Rensburg E. J., Dunning A. M. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 1995 Dec;11(4):428–433. doi: 10.1038/ng1295-428. [DOI] [PubMed] [Google Scholar]
  13. Hartge P., Struewing J. P., Wacholder S., Brody L. C., Tucker M. A. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet. 1999 Apr;64(4):963–970. doi: 10.1086/302320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hartmann L. C., Schaid D. J., Woods J. E., Crotty T. P., Myers J. L., Arnold P. G., Petty P. M., Sellers T. A., Johnson J. L., McDonnell S. K. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999 Jan 14;340(2):77–84. doi: 10.1056/NEJM199901143400201. [DOI] [PubMed] [Google Scholar]
  15. Johannesdottir G., Gudmundsson J., Bergthorsson J. T., Arason A., Agnarsson B. A., Eiriksdottir G., Johannsson O. T., Borg A., Ingvarsson S., Easton D. F. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res. 1996 Aug 15;56(16):3663–3665. [PubMed] [Google Scholar]
  16. Krainer M., Silva-Arrieta S., FitzGerald M. G., Shimada A., Ishioka C., Kanamaru R., MacDonald D. J., Unsal H., Finkelstein D. M., Bowcock A. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med. 1997 May 15;336(20):1416–1421. doi: 10.1056/NEJM199705153362003. [DOI] [PubMed] [Google Scholar]
  17. Narod S. A., Goldgar D., Cannon-Albright L., Weber B., Moslehi R., Ives E., Lenoir G., Lynch H. Risk modifiers in carriers of BRCA1 mutations. Int J Cancer. 1995 Dec 20;64(6):394–398. doi: 10.1002/ijc.2910640608. [DOI] [PubMed] [Google Scholar]
  18. Neuhausen S., Gilewski T., Norton L., Tran T., McGuire P., Swensen J., Hampel H., Borgen P., Brown K., Skolnick M. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 1996 May;13(1):126–128. doi: 10.1038/ng0596-126. [DOI] [PubMed] [Google Scholar]
  19. Oddoux C., Struewing J. P., Clayton C. M., Neuhausen S., Brody L. C., Kaback M., Haas B., Norton L., Borgen P., Jhanwar S. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996 Oct;14(2):188–190. doi: 10.1038/ng1096-188. [DOI] [PubMed] [Google Scholar]
  20. Offit K., Gilewski T., McGuire P., Schluger A., Hampel H., Brown K., Swensen J., Neuhausen S., Skolnick M., Norton L. Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet. 1996 Jun 15;347(9016):1643–1645. doi: 10.1016/s0140-6736(96)91484-1. [DOI] [PubMed] [Google Scholar]
  21. Phelan C. M., Rebbeck T. R., Weber B. L., Devilee P., Ruttledge M. H., Lynch H. T., Lenoir G. M., Stratton M. R., Easton D. F., Ponder B. A. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet. 1996 Mar;12(3):309–311. doi: 10.1038/ng0396-309. [DOI] [PubMed] [Google Scholar]
  22. Roa B. B., Boyd A. A., Volcik K., Richards C. S. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996 Oct;14(2):185–187. doi: 10.1038/ng1096-185. [DOI] [PubMed] [Google Scholar]
  23. Shattuck-Eidens D., Oliphant A., McClure M., McBride C., Gupte J., Rubano T., Pruss D., Tavtigian S. V., Teng D. H., Adey N. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA. 1997 Oct 15;278(15):1242–1250. [PubMed] [Google Scholar]
  24. Struewing J. P., Abeliovich D., Peretz T., Avishai N., Kaback M. M., Collins F. S., Brody L. C. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Oct;11(2):198–200. doi: 10.1038/ng1095-198. [DOI] [PubMed] [Google Scholar]
  25. Struewing J. P., Hartge P., Wacholder S., Baker S. M., Berlin M., McAdams M., Timmerman M. M., Brody L. C., Tucker M. A. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 May 15;336(20):1401–1408. doi: 10.1056/NEJM199705153362001. [DOI] [PubMed] [Google Scholar]
  26. Thorlacius S., Sigurdsson S., Bjarnadottir H., Olafsdottir G., Jonasson J. G., Tryggvadottir L., Tulinius H., Eyfjörd J. E. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet. 1997 May;60(5):1079–1084. [PMC free article] [PubMed] [Google Scholar]
  27. Thorlacius S., Struewing J. P., Hartge P., Olafsdottir G. H., Sigvaldason H., Tryggvadottir L., Wacholder S., Tulinius H., Eyfjörd J. E. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet. 1998 Oct 24;352(9137):1337–1339. doi: 10.1016/s0140-6736(98)03300-5. [DOI] [PubMed] [Google Scholar]
  28. Tonin P., Weber B., Offit K., Couch F., Rebbeck T. R., Neuhausen S., Godwin A. K., Daly M., Wagner-Costalos J., Berman D. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med. 1996 Nov;2(11):1179–1183. doi: 10.1038/nm1196-1179. [DOI] [PubMed] [Google Scholar]
  29. Ursin G., Henderson B. E., Haile R. W., Pike M. C., Zhou N., Diep A., Bernstein L. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res. 1997 Sep 1;57(17):3678–3681. [PubMed] [Google Scholar]
  30. Willett W. The search for the causes of breast and colon cancer. Nature. 1989 Mar 30;338(6214):389–394. doi: 10.1038/338389a0. [DOI] [PubMed] [Google Scholar]

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