Journal of Genetic Counseling

, Volume 22, Issue 4, pp 469–481 | Cite as

Comparison of the Screening Practices of Unaffected Noncarriers under 40 and between 40 and 49 in BRCA1/2 Families

  • Christelle Duprez
  • Véronique Christophe
  • Isabelle Milhabet
  • Aurélie Krzeminski
  • Claude Adenis
  • Pascaline Berthet
  • Jean-Philippe Peyrat
  • Philippe Vennin
Original Research


This study aimed to 1) compare the cancer screening practices of unaffected noncarrier women under 40 and those aged 40 to 49, following the age-based medical screening guidelines, and 2) consider the way the patients justified their practices of screening or over-screening. For this study, 131 unaffected noncarriers—77 women under age 40 and 54 between 40 and 49, all belonging to a BRCA1/2 family—responded to a questionnaire on breast or ovarian cancer screenings they had undergone since receiving their negative genetic test results, their motives for seeking these screenings, and their intentions to pursue these screenings in the future. Unaffected noncarriers under age 40 admitted practices that could be qualified as over-screening. Apart from mammogram and breast ultrasounds, which the women under 40 reported seeking less often, these women’s screening practices were comparable to those of women between 40 and 49. Cancer prevention and a family history of cancer were the two most frequently cited justifications for pursuing these screenings. We suggest that health care professionals discuss with women under 50 the ineffectiveness of breast and ovarian cancer screenings so that they will adapt their practices to conform to medical guidelines and limit their exposure to the potentially negative impacts of early cancer screening.


Screening practices Over-screening practices HBOC Asymptomatic Noncarriers Women under age 50 


  1. Agence Nationale d’Accréditation et d’Evaluation en Santé (2004). Opportunité détendre le programme national de dépistage du cancer du sein aux femmes âgées de 40 à 49 ans : actualisation mars 2004. Accessed 29 February 2012.
  2. Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyford, J. E., Hoppe, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130.PubMedCrossRefGoogle Scholar
  3. Aro, A. R., de Koning, H. J., Absetz, P., & Schreck, M. (2001). Two distinct groups of non-attenders in an organized mammography screening program. Breast Cancer Research and Treatment, 70(2), 145–153.PubMedCrossRefGoogle Scholar
  4. Bardin, L. (1991). L’analyse de contenu. Paris: Presses Universitaires de France.Google Scholar
  5. Barratt, A., Cockburn, J., Smith, D., & Redman, S. (2000). Reliability and validity of women’s recall of mammographic screening. Australian and New Zealand Journal of Public Health, 24(1), 79–81.PubMedCrossRefGoogle Scholar
  6. Brewer, N. T., Salz, T., & Lillie, S. E. (2007). Systematic review: The long-term effects of false-positive mammograms. Annals of Internal Medicine, 146, 502–510.PubMedCrossRefGoogle Scholar
  7. Caplan, L. S., McQueen, D. V., Qualters, J. R., Leff, M., Garrett, C., & Calonge, N. (2003). Validity of women’s self-reports of cancer screening test utilization in a managed care population. Cancer Epidemioly, Biomarkers & Prevention, 12(11 Pt 1), 1182–1187.Google Scholar
  8. Caruso, A., Vigna, C., Marozzo, B., Sega, F. M., Sperduti, I., Cognetti, F., & Savarese, A. (2009). Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers. Journal of Experimental & Clinical Cancer Research, 28, 157.CrossRefGoogle Scholar
  9. Chamot, E., & Perneger, T. V. (2002). Men’s and women’s knowledge and perceptions of breast cancer and mammography screening. Preventive Medicine, 34, 380–385.PubMedCrossRefGoogle Scholar
  10. Chen, S., Iversen, E. S., Friebel, T., Finkelstein, D., Weber, B. L., Eisen, A., et al. (2006). Characterization of BRCA1 and BRCA2 mutations in a large United States sample. Journal of Clinical Oncology, 24(6), 863–871.PubMedCrossRefGoogle Scholar
  11. Chiarelli, A. M., Majpruz, V., Brown, P., Thériault, M., Shumak, R., & Mai, V. (2009). The contribution of clinical breast examination to the accuracy of breast screening. Journal of the National Cancer Institute, 101(18), 1236–1243.PubMedCrossRefGoogle Scholar
  12. Cockburn, J., Irwig, L., Turnbull, D., Simpson, J. M., Mock, P., & Tattersall, M. (1989). Encouraging attendance at screening mammography: knowledge, attitudes and intentions of general practitioners. Medical Journal of Australia, 151(7), 391–396.PubMedGoogle Scholar
  13. Dawson, S. J., Price, M. A., Jenkins, M. A., McKinley, J. M., Butow, P. N., McLachlan, S. A., et al. (2008). Cancer risk management practices of noncarriers within BRCA1/2 mutation-positive families in the Kathleen Cuningham Foundation Consortium for research into familial breast cancer. Journal of Clinical Oncology, 26(2), 225–232.PubMedCrossRefGoogle Scholar
  14. Domchek, S. M., Gaudet, M. M., Stopfer, J. E., Fleischaut, M. H., Powers, J., Kauff, N., et al. (2010). Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2. Breast Cancer Research and Treatment, 119(2), 409–414.PubMedCrossRefGoogle Scholar
  15. Dorval, M., Nogues, C., Berthet, P., Chiquette, J., Gauthier-Villars, M., Lasset, C., et al. (2011). Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec. European Journal of Human Genetics, 19(5), 494–499.PubMedCrossRefGoogle Scholar
  16. Eisinger, F., Bressac, B., Castaigne, D., Collu, P. H., Lansac, J., Lefranc, J. P., et al. (2004). Identification et prise en charge des prédispositions héréditaires aux cancers du sein et de l’ovaire (mise à jour 2004). Bulletin du Cancer, 91(3), 219–237.PubMedGoogle Scholar
  17. Enquête INCa/BVA (2010). Médecins généralistes et dépistage des cancers. Accessed 29 February 2012.
  18. Epstein, S. A., Lin, T. H., Audrain, J., Stefanek, M., Rimer, B., & Lerman, C. (1997). Excessive breast self-examination among first-degree relatives of newly diagnosed breast cancer patients. High-Risk Breast Cancer Consortium. Psychosomatics, 38(3), 253–261.PubMedCrossRefGoogle Scholar
  19. Fancher, T. T., Palesty, J. A., Paszkowiak, J. J., Kiran, R. P., Malkan, A. D., & Dudrick, S. J. (2011). Can breast self-examination continue to be touted justifiably as an optional practice? International journal of surgical oncology. doi:10.1155/2011/965464.
  20. Fletcher, S. W., & Elmore, J. G. (2003). Clinical practice. Mammographic screening for breast cancer. The New England Journal of Medicine, 348(17), 1672–1680.PubMedCrossRefGoogle Scholar
  21. Foster, C., Watson, M., Eeles, R., Eccles, D., Ashley, S., Davidson, R., et al. (2007). Predictive genetic testing for BRCA1/2 in a UK clinical cohort: Three year follow-up. British Journal of Cancer, 96(5), 718–724.PubMedCrossRefGoogle Scholar
  22. Friedman, L. C., Woodruff, A., Lane, M., Weinberg, A. D., Cooper, H. P., & Webb, J. A. (1995). Breast cancer screening behaviors and intentions among asymptomatic women 50 years of age and older. American Journal of Preventive Medicine, 11(4), 218–223.PubMedGoogle Scholar
  23. Gili, A. F., Poonja, Z., & Kalra, B. B. (1993). Breast cancer screening for women younger than 40. Canadian Family Physician, 39, 65–72.PubMedGoogle Scholar
  24. Giveon, S., & Kahan, E. (2000). Patient adherence to family practitioners’ recommendations for breast cancer screening: a historical cohort study. Family Practice, 17(1), 42–45.PubMedCrossRefGoogle Scholar
  25. Harvey, S. L., Milne, R. L., McLachlan, S. A., Friedlander, M. L., Birch, K. E., Weideman, P., et al. (2011). Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive families. Breast Cancer Research and Treatment, 130, 1057–1061.PubMedCrossRefGoogle Scholar
  26. Haute Autorité de Santé (2012). Participation au dépistage du cancer du sein : Recommandations de la HAS pour les femmes de 50 à 74 ans. Accessed 29 February 2012
  27. Hendrick, R. E., & Helvie, M. A. (2011). United States Preventive Services Task Force screening mammography recommendations science ignored. American Journal of Roentgenoly, 196, W-236.Google Scholar
  28. Hofvind, S., Ponti, A., Patnick, J., Ascunce, N., Njor, S., Broeders, M., & Van Hal, G. (2012). False-positive results in mammographic screening for breast cancer in Europe: a literature review and survey of service screening programmes. Journal of Medical Screening, 19(Suppl 1), 57–66.PubMedCrossRefGoogle Scholar
  29. Hoskins, L. M., Roy, K. M., & Greene, M. H. (2012). Toward a new understanding of risk perception among young female BRCA1/2 “previvors”. Families, Systems & Health, 30(1), 32–46.CrossRefGoogle Scholar
  30. Independent UK Panel on Breast Cancer Screening. (2012). The benefits and harms of breast cancer screening: an independent review. Lancet, 380(9855), 1778–1786.CrossRefGoogle Scholar
  31. Institut National du Cancer (2010). Les recommandations en matière de dépistage des cancers : propositions pour un nouveau modèle. Accessed 29 February 2012
  32. Institut National du Cancer (2012). Dépistage du cancer du sein : qui est concerné ? Accessed 21 November 2012
  33. Institut National du Cancer (2012). Limites et incertitudes sur le dépistage. Accessed 21 November 2012
  34. Isaacs, C., Peshkin, B. N., Schwartz, M., Demarco, T. A., Main, D., & Lerman, C. (2002). Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or ovarian cancer. Breast Cancer Research and Treatment, 71(2), 103–112.PubMedCrossRefGoogle Scholar
  35. Julian-Reynier, C., Mancini, J., Mouret-Fourme, E., Gauthier-Villars, M., Bonadona, V., Berthet, P., et al. (2011). Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations. European Journal of Human Genetics, 19(5), 500–506.PubMedCrossRefGoogle Scholar
  36. Kadaoui, N., Guay, M., Baron, G., St-Cerny, J., & Lemaire, J. (2012). Breast cancer screening practices for women aged 35 to 49 and 70 and older. Canadian Family Physician, 58, 47–53.Google Scholar
  37. Katapodi, M. C., Lee, K. A., Facione, N. C., & Dodd, M. J. (2004). Predictors of perceived breast cancer risk and the relation between perceived risk and breast cancer screening: a meta-analytic review. Preventive Medicine, 38(4), 388–402.PubMedCrossRefGoogle Scholar
  38. Kearney, A. J., & Murray, M. (2009). Breast cancer screening recommendations: is mammography the only answer? Journal of Midwifery & Women’s Health, 54(5), 393–400.CrossRefGoogle Scholar
  39. Kopans, D. B. (2010). The 2009 US Preventive Services Task Force (USPSTF) guidelines are not supported by science: the scientific support for mammography screening. Radiologic Clinics of North America, 48(5), 843–857.PubMedCrossRefGoogle Scholar
  40. Korde, L. A., Mueller, C. M., Loud, J. T., Struewing, J. P., Nichols, K., Greene, M. H., et al. (2011). No evidence of excess breast cancer risk among mutation-negative women from BRCA mutation-positive families. Breast Cancer Research and Treatment, 125, 169–173.PubMedCrossRefGoogle Scholar
  41. Lechner, L., de Vries, H., & Offermans, N. (1997). Participation in a breast cancer screening program: influence of past behavior and determinants on future screening participation. Preventive Medicine, 26(4), 473–482.PubMedCrossRefGoogle Scholar
  42. Lehman, C. D., White, E., Peacock, S., Drucker, M. J., & Urban, N. (1999). Effect of age and breast density on screening mammograms with false-positive findings. American Journal of Roentgenology, 173(6), 1651–1655.PubMedCrossRefGoogle Scholar
  43. Ma, I., Dueck, A., Gray, R., Wasif, N., Giurescu, M., Lorans, R., & Pockaj, B. (2012). Clinical and self breast examination remain important in the era of modern screening. Annals of Surgical Oncology, 19(5), 1484–1490.PubMedCrossRefGoogle Scholar
  44. McCaul, K. D., Branstetter, A. D., Schroeder, D. M., & Glasgow, R. E. (1996). What is the relationship between breast cancer risk and mammography screening? A meta-analytic review. Health psychology: official journal of the Division of Health Psychology, 15(6), 423–429.CrossRefGoogle Scholar
  45. McCready, T., Littlewood, D., & Jenkinson, J. (2005). Breast self-examination and breast awareness: a literature review. Journal of Clinical Nursing, 14(5), 570–578.PubMedCrossRefGoogle Scholar
  46. McDonald, S., Saslow, D., & Alciati, M. H. (2004). Performance and reporting of clinical breast examination: a review of the literature. CA: a Cancer Journal for Clinicians, 54(6), 345–361.CrossRefGoogle Scholar
  47. McInerney-Leo, A., Hadley, D., Kase, R. G., Giambarresi, T. R., Struewing, J. P., & Biesecker, B. B. (2006). BRCA1/2 testing in hereditary breast and ovarian cancer families III: Risk perception and screening. American Journal of Medical Genetics, 140A, 2198–2206.CrossRefGoogle Scholar
  48. Meissner, H. I., Klabunde, C. N., Han, P. K., Benard, V. B., & Breen, N. (2011). Breast cancer screening beliefs, recommendations and practices: primary care physicians in the United States. Cancer, 117(14), 3101–3111.PubMedCrossRefGoogle Scholar
  49. Metcalfe, K., Lynch, H. T., Ghadirian, P., Tung, N., Olivotto, I., Warner, E., et al. (2004). Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of Clinical Oncology, 22(12), 2328–2335.PubMedCrossRefGoogle Scholar
  50. Milhabet, I., Duprez, C., Krzeminski, A., & Christophe, V. (2012). Cancer risk comparative perception and overscreening behaviors of non-carriers from BRCA1/2 families. Manuscript submitted for publication.Google Scholar
  51. National Cancer Institute (2008). Surveillance, Epidemiology, and End Results Program, “SEERStat Database: Incidence-SEER 17 Regs Public Use, Linked to County Attributes- Total US, 1969–2006 Counties.
  52. National Institute of Health. (1997). Breast cancer screening for women ages 40–49. NIH Consensus Statement, 15, 1–35.Google Scholar
  53. Nekolla, E. A., Griebel, J., & Brix, G. (2008). Radiation risk associated with mammography screening examinations for women younger than 50 years of age. Zeitschrift für Medizinische Physik, 18(3), 170–179.PubMedCrossRefGoogle Scholar
  54. Nelson, H. D., Tyne, K., Naik, A., Bougatsos, C., Chan, B., Nygren, P., et al. (2009). Screening for Breast Cancer: Systematic Evidence Review Update for the US Preventive Services Task Force [Internet]. US Preventive Services Task Force Evidence Syntheses, Report No.: 10-05142-EF-1.Google Scholar
  55. O’Neill, S. C., Valdimarsdottir, H. B., DeMarco, T. A., Peshkin, B. N., Graves, K. D., Brown, K., et al. (2010). BRCA1/2 test results impact risk management attitudes, intentions and uptake. Breast Cancer Research and Treatment, 124(3), 755–764.PubMedCrossRefGoogle Scholar
  56. Perry, S. (2009). Breast self examination no longer recommended. Nursing New Zealand, 15(2), 12.PubMedGoogle Scholar
  57. Peshkin, B. N., Schwartz, M. D., Isaacs, C., Hughes, C., Main, D., & Lerman, C. (2002). Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing. Cancer Epidemiology, Biomarkers & Prevention, 11, 1115–1118.Google Scholar
  58. Pilarski, R. (2009). Risk perception among women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counselling, 18, 303–312.CrossRefGoogle Scholar
  59. Pivot, X., Eisinger, F., Blay, J. Y., Coscas, Y., Calazel-Benque, A., Viguier, J., et al. (2011). Mammography utilization in women aged 40–49 years: the French EDIFICE survey. European Journal of Cancer Prevention, 20(1), S16–19.PubMedCrossRefGoogle Scholar
  60. Qaseem, A., Snow, V., Sherif, K., Aronson, M., Weiss, K. B., & Owens, D. K. (2007). Screening mammography for women 40 to 49 years of age: A clinical practice guideline from the American college of physicians. Annals of Internal Medicine, 146, 511–515.PubMedCrossRefGoogle Scholar
  61. Risch, H. A., McLaughlin, J. R., Cole, D. E., Rosen, B., Bradley, L., Kwan, E., et al. (2001). Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. American Journal of Human Genetics, 68(3), 700–710.PubMedCrossRefGoogle Scholar
  62. Risch, H. A., McLaughlin, J. R., Cole, D. E., Rosen, B., Bradley, L., Fan, I., et al. (2006). Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. Journal of the National Cancer Institute, 98(23), 1694–1706.PubMedCrossRefGoogle Scholar
  63. Rogozinska-Szczepka, J., Utracka-Hutka, B., Grzybowska, E., Maka, B., Nowicka, E., Smok-Ragankiewicz, A., et al. (2004). BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients. Annals of Oncology, 15(9), 1373–1376.PubMedCrossRefGoogle Scholar
  64. Rosenstock, I. M. (1990). The health belief model: Explaining health behavior through expectancies. In K. Glanz, F. M. Lewis, & B. K. Rimer (Eds.), Health behavior and health education: Theory, research, and practice (pp. 39–62). San Francisco, CA: Jossey-Bass.Google Scholar
  65. Rosolowich, V. (2006). Breast self-examination. Journal of Obstetrics and Gynaecology Canada, 28(8), 728–730.PubMedGoogle Scholar
  66. Rowe, J. L., Montgomery, G. H., Duberstein, P. R., & Bovbjerg, D. H. (2005). Health locus of control and perceived risk for breast cancer in healthy women. Behavioral Medicine, 31(1), 33–40.PubMedCrossRefGoogle Scholar
  67. Sabatino, S. A., McCarthy, E. P., Phillips, R. S., & Burns, R. B. (2007). Breast cancer risk assessment and management in primary care: provider attitudes, practices, and barriers. Cancer Detection and Prevention, 31(5), 375–383.PubMedCrossRefGoogle Scholar
  68. Salz, T., Richman, A. R., & Brewer, N. T. (2010). Meta-analyses of the effect of false-positive mammograms on generic and specific psychosocial outcomes. Psycho-Oncology, 19, 1026–1034.PubMedCrossRefGoogle Scholar
  69. Smith, R. A. (2000). Breast cancer screening among women younger than age 50: a current assessment of the issues. Canadian Cancer Journal for Clinicians, 50(5), 312–336.CrossRefGoogle Scholar
  70. Tinley, S. T., Houfek, J., Watson, P., Wenzel, L., Clark, M. B., Coughlin, S., Lynch, H. T., et al. (2004). Screening adherence in BRCA1/2 families is associated with primary physicians’ behavior. American Journal of Medical Genetics, 125A(1), 5–11.PubMedCrossRefGoogle Scholar
  71. US Preventive Services Task Force. (2009). Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement. Annals of Internal Medicine, 151(10), 716–726.CrossRefGoogle Scholar
  72. Vos, J., Oosterwijk, J. C., Gomez-Garcia, E., Menko, F. H., Colle, M. J., van Asperen, C. J., et al. (2012). Exploring the short-term impact of DNA-testing in breast cancer patients: The counselees’ perception matters, but the actual BRCA1/2 result does not. Patient Education and Counseling, 86, 239–251.PubMedCrossRefGoogle Scholar
  73. Woloshin, S., Schwartz, L. M., Byram, S. J., Sox, H. C., Fischhoff, B., & Welch, H. G. (2000). Women’s understanding of the mammography screening debate. Archives of Internal Medicine, 160, 1434–1440.PubMedCrossRefGoogle Scholar
  74. Yokoe, T., Iino, Y., Maemura, M., Takei, H., Horiguchi, J., Matsumoto, H., et al. (1998). Efficacy of mammography for detecting early breast cancer in women under 50. Anticancer Research, 18(6B), 4709–4711.PubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Christelle Duprez
    • 1
    • 6
  • Véronique Christophe
    • 1
    • 6
  • Isabelle Milhabet
    • 2
  • Aurélie Krzeminski
    • 2
  • Claude Adenis
    • 3
  • Pascaline Berthet
    • 4
  • Jean-Philippe Peyrat
    • 5
  • Philippe Vennin
    • 3
  1. 1.URECA EA 1059Université Lille Nord de FranceVilleneuve d’AscqFrance
  2. 2.LAPCOS EAUniversité de Nice-Sophia AntipolisNiceFrance
  3. 3.Département de SénologieCentre Oscar LambretLilleFrance
  4. 4.Equipe multidisciplinaire d’oncogénétiqueCentre François BaclesseCaenFrance
  5. 5.Laboratoire d’Oncologie Moléculaire HumaineCentre Oscar LambretLilleFrance
  6. 6.URECA EA 1059Domaine Universitaire du pont de BoisVilleneuve d’Ascq cedexFrance

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