Skip to main content
SpringerLink
Log in

Hereditary Breast and Ovarian Cancer Syndrome

The Impact of Race on Uptake of Genetic Counseling and Testing

  • Protocol
Cancer Epidemiology

Part of the book series: Methods in Molecular Biology ((MIMB,volume 471))

Summary

Breast cancer is a significant cause of morbidity and mortality in the United States. Although breast cancer is more common among White American (WA) women, incidence rates are higher among young African American (AA) women. Approximately 5–10% of all breast cancer can be accounted for by germline mutations in the breast cancer (BRCA)1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC) syndrome. Although genetic counseling (GC) and genetic testing (GT) for HBOC have become widely accepted by the WA population, cancer genetic services are underused among AA. Many investigators have evaluated a wide spectrum of BRCA1 and BRCA2 mutations in the AA and African population with the possible identification of African founder mutations. Barriers to GC and GT include lack of knowledge and/or negative attitudes regarding genetics and genetics research, and concerns regarding the potential for racial discrimination. It is important for future research to focus on ways in which to eliminate barriers to GC and GT to alleviate disparity in the use of genetic services among high-risk AA women.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Merrill, R. M., Weed, D. L. (2001) Measuring the public health burden of cancer in the United States through lifetime and age-conditional risk estimates. Ann. Epidemiol. 11, 547–553.

    Article  CAS  PubMed  Google Scholar 

  2. Glanz, K., Croyle, R. T., Chollette, V. Y., Pinn, V. W. (2003) Cancer-related health disparities in women. Am. J. Public Health 93, 292–298.

    Article  PubMed  Google Scholar 

  3. Weir, H. K., Thun, M. J., Hankey, B. F., Ries, L. A., Howe, H. L., Wingo, P. A., Jemal, A., Ward, E., Anderson, R. N., Edwards, B. K. (2003) Annual report to the nation on the status of cancer, 1975–2000, featuring the uses of surveillance data for cancer prevention and control. J. Natl. Cancer Inst. 95, 1276–1299.

    PubMed  Google Scholar 

  4. Claus, E. B., Risch, N. J., Thompson, W. D. (1990) Age at onset as an indicator of familial risk of breast cancer. Am. J. Epidemiol. 131, 961–972.

    CAS  PubMed  Google Scholar 

  5. Simon, M. S., Korczak, J. F., Yee, C. L., Malone, K. E., Ursin, G., Bernstein, L., McDonald, J. A., Deapen, D., Strom, B. L., Press, M. F., Marchbanks, P. A., Burkman, R. T., Weiss, L. K., Schwartz, A. G. (2006) Breast cancer risk estimates for relatives of white and African American women with breast cancer in the Women's Contraceptive and Reproductive Experiences Study. J. Clin. Oncol. 24, 2498–2504.

    Article  PubMed  Google Scholar 

  6. Du, W., Simon, M. S. (2005) Racial disparities in treatment and survival of women with stage I–III breast cancer at a large academic medical center in metropolitan Detroit. Breast Cancer Res. Treat. 91, 243–248.

    Article  PubMed  Google Scholar 

  7. Simon, M. S., Banerjee, M., Crossley-May, H., Vigneau, D., Noone, A. M., Schwartz, K. (2005) Racial differences in breast cancer survival in the Detroit Metropolitan area. Breast Cancer Res Treat. 97, 149–55.

    Article  PubMed  Google Scholar 

  8. Newman, L. A, Griffith, K. A., Jatoi, I., Simon, M. S., Crowe, J. P., Colditz, G. A. (2006) Meta-analysis of survival in African American and white American patients with breast cancer: ethnicity compared with socioeconomic status. J. Clin. Oncol. 24, 1342–1349.

    Article  PubMed  Google Scholar 

  9. Shavers, V. L., Brown, M. L. (2002) Racial and ethnic disparities in the receipt of cancer treatment. J. Natl. Cancer Inst. 94, 334–357.

    PubMed  Google Scholar 

  10. O'Malley, C. D., Le, G. M., Glaser, S. L., Shema, S. J., West, D. W. (2003) Socioeconomic status and breast carcinoma survival in four racial/ethnic groups: a population-based study. Cancer 97, 1303–1311.

    Article  PubMed  Google Scholar 

  11. Ashton, C. M, Haidet, P., Paterniti, D. A., Collins, T. C., Gordon, H. S., O'Malley, K., Petersen, L. A., Sharf, B. F., Suarez-Almazor, M. E., Wray, N. P., Street, R. L Jr.,. (2003) Racial and ethnic disparities in the use of health services: bias, preferences, or poor communication? J. Gen. Intern. Med. 18, 146–152.

    Article  PubMed  Google Scholar 

  12. Joslyn, S. A. (2002) Racial differences in treatment and survival from early-stage breast carcinoma. Cancer 95, 1759–1766.

    Article  PubMed  Google Scholar 

  13. Shavers, V. L., Harlan, L. C., Stevens, J. L. (2003) Racial/ethnic variation in clinical presentation, treatment, and survival among breast cancer patients under age 35. Cancer 97, 134–147.

    Article  PubMed  Google Scholar 

  14. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L. M., Ding, W. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66–71.

    Article  CAS  PubMed  Google Scholar 

  15. Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., Micklem, G. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–792.

    Article  CAS  PubMed  Google Scholar 

  16. Rebbeck, T. R., Lynch, H. T., Neuhausen, S. L., Narod, S. A., Van't Veer, L., Garber, J. E., Evans, G., Isaacs, C., Daly, M. B., Matlof f, E., Olopade, O. I., Weber, B. L. (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N. Engl. J. Med. 346, 1616–1622.

    Article  PubMed  Google Scholar 

  17. Rebbeck, T. R, Friebel, T., Lynch, H. T., Neuhausen, S. L., van't Veer L, Garber, J. E., Evans, G. R., Narod, S. A., Isaacs, C., Matloff, E., Daly, M. B., Olopade, O. I., Weber, B. L. (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J. Clin. Oncol. 22, 1055–1062.

    Article  PubMed  Google Scholar 

  18. Ford, D., Easton, D. F., Bishop, D. T., Narod, S. A., Goldgar, D. E. (1994) Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343, 692–695.

    Article  CAS  PubMed  Google Scholar 

  19. 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, J., Rebbeck, T. R., Tonin, P., Neuhausen, S., Barkar-dottir, R., Eyfjord, J., Lynch, H., Ponder, B. A., Gayther, S. A., Zelada-Hedman, M. (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.

    Article  CAS  PubMed  Google Scholar 

  20. Domchek, S. M., Friebel, T. M., Neuhausen, S. L., Wagner, T., Evans, G., Isaacs, C., Garber, J. E., Daly, M. B., Eeles, R., Matloff, E., Tomlinson, G. E., Van't, V. L., Lynch, H. T., Olopade, O. I., Weber, B. L., Rebbeck, T. R. (2006) Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol. 7, 223–229.

    Article  CAS  PubMed  Google Scholar 

  21. Olopade, O. I., Fackenthal, J. D., Dunston, G., Tainsky, M. A., Collins, F., Whitfield-Broome, C. (2003) Breast cancer genetics in African Americans. Cancer 97, 236–245.

    Article  CAS  PubMed  Google Scholar 

  22. Ademuyiwa, F. O., Olopade, O. I. (2003) Racial differences in genetic factors associated with breast cancer. Cancer Metastasis Rev. 22, 47–53.

    Article  CAS  PubMed  Google Scholar 

  23. Nanda, R., Schumm, L. P., Cummings, S., Fackenthal, J. D., Sveen, L., Ademuyiwa, F., Cobleigh, M., Esserman, L., Lindor, N. M., Neuhausen, S. L., Olopade, O. I. (2005) Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. Jama 294, 1925–1933.

    Article  CAS  PubMed  Google Scholar 

  24. Armstrong, K., Micco, E., Carney, A., Stopfer, J., Putt, M. (2005) Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. Jama 293, 1729–1736.

    Article  CAS  PubMed  Google Scholar 

  25. Matthews, A. K., Cummings, S., Thompson, S., Wohl, V., List, M., Olopade, O. I. (2000) Genetic testing of African Americans for susceptibility to inherited cancers: use of focus groups to determine factors contributing to participation. J. Psychosoc. Oncol. 18, 1–19.

    Article  Google Scholar 

  26. Kinney, A. Y., Croyle, R. T., Dudley, W. N., Bailey, C. A., Pelias, M. K., Neuhausen, S. L. (2001) Knowledge, attitudes, and interest in breast-ovarian cancer gene testing: a survey of a large African-American kindred with a BRCA1 mutation. Prev. Med. 33, 543–551.

    Article  CAS  PubMed  Google Scholar 

  27. Couch, F. J., DeShano, M. L., Blackwood, M. A., Calzone, K., Stopfer, J., Campeau, L., Ganguly, A., Rebbeck, T., Weber, B. L. (1997) BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N. Engl. J. Med. 336, 1409–1415.

    Article  CAS  PubMed  Google Scholar 

  28. Phillips, K. A., Nichol, K., Ozcelik, H., Knight, J., Done, S. J., Goodwin, P. J., Andrulis, I. L. (1999) Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J. Natl. Cancer Inst. 91, 469–473.

    Article  CAS  PubMed  Google Scholar 

  29. Marcus, J. N., Watson, P., Page, D. L., Narod, S. A., Tonin, P., Lenoir, G. M., Serova, O., Lynch, H. T. (1997) BRCA2 hereditary breast cancer pathophenotype. Breast Cancer Res. Treat. 44, 275–277.

    Article  CAS  PubMed  Google Scholar 

  30. (1997) Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 349, 1505–1510.

    Google Scholar 

  31. Verhoog, L. C., Brekelmans, C. T., Sey-naeve, C., van den Bosch, L. M., Dahmen, G., van Geel, A. N., Tilanus-Linthorst, M. M., Bartels, C. C., Wagner, A., van den, O. A., Devilee, P., Meijers-Heijboer, E. J., Klijn, J. G. (1998) Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351, 316–321.

    Article  CAS  PubMed  Google Scholar 

  32. Chen, V. W., Correa, P., Kurman, R. J., Wu, X. C., Eley, J. W., Austin, D., Muss, H., Hunter, C. P., Redmond, C., Sobhan, M.,. (1994) Histological characteristics of breast carcinoma in blacks and whites. Cancer Epidemiol.Biomarkers Prev. 3, 127–135.

    CAS  PubMed  Google Scholar 

  33. Joslyn, S. A. (2002) Hormone receptors in breast cancer: racial differences in distribution and survival. Breast Cancer Res. Treat. 73, 45–59.

    Article  CAS  PubMed  Google Scholar 

  34. Simon, M. S., Severson, R. K. (1996) Racial differences in survival of female breast cancer in the Detroit metropolitan area. Cancer 77, 308–314.

    Article  CAS  PubMed  Google Scholar 

  35. Jones, B. A., Kasl, S. V., Howe, C. L., Lachman, M., Dubrow, R., Curnen, M. M., Soler-Vila, H., Beeghly, A., Duan, F., Owens, P. (2004) African-American/White differences in breast carcinoma: p53 alterations and other tumor characteristics. Cancer 101, 1293–1301.

    Article  PubMed  Google Scholar 

  36. Li, C. I., Malone, K. E., Daling, J. R. (2003) Differences in breast cancer stage, treatment, and survival by race and ethnicity. Arch. Intern. Med. 163, 49–56.

    Article  PubMed  Google Scholar 

  37. Grann, V., Troxel, A. B., Zojwalla, N., Hersh-man, D., Glied, S. A., Jacobson, J. S. (2005) Regional and racial disparities in breast cancer-specific mortality. Soc. Sci. Med.

    Google Scholar 

  38. Gao, Q., Neuhausen, S., Cummings, S., Luce, M., Olopade, O. I. (1997) Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer. Am. J. Hum. Genet. 60, 1233–1236.

    CAS  PubMed  Google Scholar 

  39. Futreal, P. A., Liu, Q., Shattuck-Eidens, D., Cochran, C., Harshman, K., Tavtigian, S., Bennett, L. M., Haugen-Strano, A., Swensen, J., Miki, Y. (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science 266, 120–122.

    Article  CAS  PubMed  Google Scholar 

  40. Panguluri, R. C., Brody, L. C., Modali, R., Utley, K., Adams-Campbell, L., Day, A. A., Whitfield-Broome, C., Dunston, G. M. (1999) BRCA1 mutations in African Americans. Hum. Genet. 105, 28–31.

    Article  CAS  PubMed  Google Scholar 

  41. Stoppa-Lyonnet, D., Laurent-Puig, P., Essioux, L., Pages, S., Ithier, G., Ligot, L., Fourquet, A., Salmon, R. J., Clough, K. B., Pouillart, P., Bonaiti-Pellie, C., Thomas, G. (1997) BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. Am. J. Hum. Genet. 60, 1021–1030.

    Google Scholar 

  42. Arena, J. F., Smith, S., Plewinska, M. (1996) BRCA1 mutations in African American women. Am. J. Hum. Genet. 59 (Suppl) A34.

    Google Scholar 

  43. Arena, J. F., Smith, S., Vincek, V. (1997) A BRCA1 founder mutation in African Americans. Am. J. Hum. Genet. 65 (Suppl) A325.

    Google Scholar 

  44. Mefford, H. C., Baumbach, L., Panguluri, R. C., Whitfield-Broome, C., Szabo, C., Smith, S., King, M. C., Dunston, G., Stoppa-Lyonnet, D., Arena, F. (1999) Evidence for a BRCA1 founder mutation in families of West African ancestry. Am. J. Hum. Genet. 65, 575–578.

    Article  CAS  PubMed  Google Scholar 

  45. Castilla, L. H., Couch, F. J., Erdos, M. R., Hoskins, K. F., Calzone, K., Garber, J. E., Boyd, J., Lubin, M. B., DeShano, M. L., Brody, L. C. (1994) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat. Genet. 8, 387–391.

    Article  CAS  PubMed  Google Scholar 

  46. Shen, D., Wu, Y., Subbarao, M., Bhat, H., Chillar, R., Vadgama, J. V. (2000) Mutation analysis of BRCA1 gene in African-American patients with breast cancer. J. Natl. Med. Assoc. 92, 29–35.

    CAS  PubMed  Google Scholar 

  47. Gao, Q., Adebamowo, C. A., Fackenthal, J., Das, S., Sveen, L., Falusi, A. G., Olopade, O. I. (2000) Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer. Hum. Genet. 107, 192–194

    Article  CAS  PubMed  Google Scholar 

  48. Tambor, E. S., Bernhardt, B. A., Rodgers, J., Holtzman, N. A., Geller, G. (2002) Mapping the human genome: an assessment of media coverage and public reaction. Genet. Med. 4, 31–36.

    Article  PubMed  Google Scholar 

  49. Peters, N., Rose, A., Armstrong, K. (2004) The association between race and attitudes about predictive genetic testing. Cancer Epidemiol. Biomarkers Prev. 13, 361–365.

    PubMed  Google Scholar 

  50. Donovan, K. A., Tucker, D. C. (2000) Knowledge about genetic risk for breast cancer and perceptions of genetic testing in a sociodemographically diverse sample. J. Behav. Med. 23, 15–36.

    Article  CAS  PubMed  Google Scholar 

  51. Armstrong, K., Weber, B., Ubel, P. A., Guerra, C., Schwartz, J. S. (2002) Interest in BRCA1/2 testing in a primary care population. Prev. Med. 34, 590–595.

    Article  PubMed  Google Scholar 

  52. Lipkus, I. M., Iden, D., Terrenoire, J., Fea-ganes, J. R. (1999) Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer. Cancer Epidemiol. Biomarkers Prev. 8, 533–539.

    CAS  PubMed  Google Scholar 

  53. Hughes, C., Gomez-Caminero, A., Benk-endorf, J., Kerner, J., Isaacs, C., Barter, J., Lerman, C. (1997) Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Educ. Couns. 32, 51–62.

    Article  CAS  PubMed  Google Scholar 

  54. Durfy, S. J., Bowen, D. J., McTiernan, A., Sporleder, J., Burke, W. (1999) Attitudes and interest in genetic testing for breast and ovarian cancer susceptibility in diverse groups of women in western Washington. Cancer Epidemiol. Biomarkers Prev. 8, 369–375.

    CAS  PubMed  Google Scholar 

  55. Tambor, E. S., Rimer, B. K., Strigo, T. S. (1997) Genetic testing for breast cancer susceptibility: awareness and interest among women in the general population. Am. J. Med. Genet. 68, 43–49.

    Article  CAS  PubMed  Google Scholar 

  56. Furr, L. A. (2002) Perceptions of genetics research as harmful to society: differences among samples of African-Americans and European-Americans. Genet. Test. 6, 25–30.

    Article  PubMed  Google Scholar 

  57. Bates, B. R., Lynch, J. A., Bevan, J. L., Condit, C. M. (2005) Warranted concerns, warranted outlooks: a focus group study of public understandings of genetic research. Soc. Sci. Med. 60, 331–344.

    Article  PubMed  Google Scholar 

  58. Sankar, P., Cho, M. K., Condit, C. M., Hunt, L. M., Koenig, B., Marshall, P., Lee, S. S., Spicer, P. (2004) Genetic research and health disparities. Jama 291, 2985–2989.

    Article  CAS  PubMed  Google Scholar 

  59. Hughes, C., Lerman, C., Lustbader, E. (1996) Ethnic differences in risk perception among women at increased risk for breast cancer. Breast Cancer Res Treat. 40, 25–35.

    Article  CAS  PubMed  Google Scholar 

  60. Durfy, S. J., Bowen, D. J., McTiernan, A., Sporleder, J., Burke, W. (1999) Attitudes and interest in genetic testing for breast and ovarian cancer susceptibility in diverse groups of women in western Washington. Cancer Epidemiol. Biomarkers Prev. 8, 369–375.

    CAS  PubMed  Google Scholar 

  61. Brandon, D. T., Isaac, L. A., LaVeist, T. A. (2005) The legacy of Tuskegee and trust in medical care: is Tuskegee responsible for race differences in mistrust of medical care? J. Natl. Med. Assoc. 97, 951–956.

    PubMed  Google Scholar 

  62. Thompson, H. S., Valdimarsdottir, H. B., Duteau-Buck, C., Guevarra, J., Bovbjerg, D. H., Richmond-Avellaneda, C., Amarel, D., Godfrey, D., Brown, K., Offit, K. (2002) Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women. Cancer Epidemiol. Biomarkers Prev. 11, 1579–1585.

    PubMed  Google Scholar 

  63. Freedman, A. N., Wideroff, L., Olson, L., Davis, W., Klabunde, C., Srinath, K. P., Reeve, B. B., Croyle, R. T., Ballard-Barbash, R. (2003) US physicians' attitudes toward genetic testing for cancer susceptibility. Am. J. Med. Genet. 120, 63–71.

    Article  Google Scholar 

  64. Lee, R., Beattie, M., Crawford, B., Mak, J., Stewart, N., Komaromy, M., Esserman, L., Shaw, L., McLennan, J., Strachowski, L., Luce, J., Ziegler, J. (2005) Recruitment, genetic counseling, and BRCA testing for underserved women at a public hospital. Genet. Test. 9, 306–312.

    Article  PubMed  Google Scholar 

  65. Schwartz, M. D., Hughes, C., Roth, J., Main, D., Peshkin, B. N., Isaacs, C., Kavan-agh, C., Lerman, C. (2000) Spiritual faith and genetic testing decisions among high-risk breast cancer probands. Cancer Epidemiol. Biomarkers Prev. 9, 381–385.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Hematology and Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA

    Michael S. Simon

  2. Population Studies and Prevention Program, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA

    Nancie Petrucelli

Authors
  1. Michael S. Simon
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nancie Petrucelli
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Division of Cancer Control and Population Sciences Bethesda, Maryland, 20892, USA

    Mukesh Verma PhD

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer Science+Business Media, LLC

About this protocol

Cite this protocol

Simon, M.S., Petrucelli, N. (2009). Hereditary Breast and Ovarian Cancer Syndrome. In: Verma, M. (eds) Cancer Epidemiology. Methods in Molecular Biology, vol 471. Humana Press. https://doi.org/10.1007/978-1-59745-416-2_25

Download citation

  • DOI: https://doi.org/10.1007/978-1-59745-416-2_25

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-987-1

  • Online ISBN: 978-1-59745-416-2

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics

Search

Navigation