Skip to main content

Advertisement

SpringerLink
Log in

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Genetic counseling and BRCA1/BRCA2 genes testing are routinely offered in a clinical setting. However, no data are available on the proportion of breast cancer patients with a positive family history undergoing genetic counseling. By linking databases of the Oncogenetics and Cancer Prevention Unit at the Geneva University Hospitals and the population-based Geneva Cancer Registry, we evaluated the uptake of genetic counseling among 1709 breast cancer patients with familial risk of breast cancer and the determinants of such a consultation process. We also studied the impact of genetic counseling on contralateral breast cancer occurrence and survival. Overall, 191 (11.2 %) breast cancer patients had genetic counseling; this proportion was 25.1 % within the high familial risk group. Recent period of diagnosis, early-onset breast cancer, female offspring, high familial risk, tumor size, and chemotherapy treatment were statistically significantly associated with genetic counseling uptake in multivariate analysis. More than 2 % of patients had developed contralateral metachronous breast cancer. An increased risk of contralateral breast cancer of borderline significance was found for patients who had genetic counseling versus those who had not (Cox model adjusted hazard ratio 2.2, 95 % confidence intervals 1.0–5.2, P = 0.063). Stratification by BRCA1/BRCA2 mutation status showed that the occurrence of contralateral breast cancer was 8-fold higher among mutation carriers compared with non-carriers. Age-adjusted overall survival and breast cancer-specific survival were not significantly different between patients who underwent genetic counseling and those who did not. In conclusion, we observed a significant increase in the use of genetic counseling over time and found that breast cancer patients with high familial risk had more often genetic counseling than those with moderate familial risk. A more thorough evaluation of sociodemographic and clinical predictors to attend the cancer genetic unit may help improving the use of genetic counseling services for at-risk individuals at a population level.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Pharoah PD, Day NE, Duffy S, Easton DF, Ponder BA (1997) Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 71(5):800–809

    Article  CAS  PubMed  Google Scholar 

  2. Collaborative Group on Hormonal Factors in Breast Cancer (2001) 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(9291):1389–1399

    Google Scholar 

  3. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M et al (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(3):676–689

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Lalloo F, Evans DG (2012) Familial breast cancer. Clin Genet 82(2):105–114

    Article  CAS  PubMed  Google Scholar 

  5. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K, American Society of Clinical Oncology (2010) American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28(5):893–901

    Article  PubMed  Google Scholar 

  6. Dawson LA, Chow E, Goss PE (1998) Evolving perspectives in contralateral breast cancer. Eur J Cancer 34(13):2000–2009

    Article  CAS  PubMed  Google Scholar 

  7. Chen Y, Thompson W, Semenciw R, Mao Y (1999) Epidemiology of contralateral breast cancer. Cancer Epidemiol Biomarkers Prev 8(10):855–861

    CAS  PubMed  Google Scholar 

  8. Kollias J, Ellis IO, Elston CW, Blamey RW (1999) Clinical and histological predictors of contralateral breast cancer. Eur J Surg Oncol 25(6):584–589

    Article  CAS  PubMed  Google Scholar 

  9. Hartman M, Czene K, Reilly M, Bergh J, Lagiou P, Trichopoulos D, Adami HO, Hall P (2005) Genetic implications of bilateral breast cancer: a population based cohort study. Lancet Oncol 6(6):377–382

    Article  PubMed  Google Scholar 

  10. Beckmann KR, Buckingham J, Craft P, Dahlstrom JE, Zhang Y, Roder D, Stuart-Harris R (2011) Clinical characteristics and outcomes of bilateral breast cancer in an Australian cohort. Breast 20(2):158–164

    Article  CAS  PubMed  Google Scholar 

  11. Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler RK (2009) Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27(35):5887–5892

    Article  PubMed  Google Scholar 

  12. Malone KE, Begg CB, Haile RW, Borg A, Concannon P, Tellhed L, Xue S, Teraoka S, Bernstein L, Capanu M, Reiner AS, Riedel ER, Thomas DC, Mellemkjaer L, Lynch CF, Boice JD Jr, Anton-Culver H, Bernstein JL (2010) Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol 28(14):2404–2410

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Metcalfe K, Gershman S, Lynch HT, Ghadirian P, Tung N, Kim-Sing C, Olopade OI, Domchek S, McLennan J, Eisen A, Foulkes WD, Rosen B, Sun P, Narod SA (2011) Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 104(9):1384–1392

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF, On behalf of EMBRACE (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105(11):812–8225

    Article  CAS  PubMed  Google Scholar 

  15. Julian-Reynier C, Sobol H, Sevilla C, Nogues C, Bourret P, French Cancer Genetic N (2000) Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network. Psychooncology 9(6):504–510

    Article  CAS  PubMed  Google Scholar 

  16. Hagoel L, Dishon S, Almog R, Silman Z, Bisland-Becktell S, Rennert G (2000) Proband family uptake of familial-genetic counselling. Psychooncology 9(6):522–527

    Article  CAS  PubMed  Google Scholar 

  17. Brooks L, Lennard F, Shenton A, Lalloo F, Ambus I, Ardern-Jones A, Belk R, Kerr B, Craufurd D, Eeles R, Evans DG (2004) BRCA1/2 predictive testing: a study of uptake in two centres. Eur J Hum Genet 12(8):654–662

    Google Scholar 

  18. Landsbergen K, Verhaak C, Kraaimaat F, Hoogerbrugge N (2005) Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients. Fam Cancer 4(2):115–119

    Article  PubMed  Google Scholar 

  19. Evans DG, Binchy A, Shenton A, Hopwood P, Craufurd D (2009) Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin Genet 75(2):124–132

    Article  CAS  PubMed  Google Scholar 

  20. Sanz J, Ramon y Cajal T, Torres A, Darder E, Gadea N, Velasco A, Fortuny D, Lopez C, Fisas D, Brunet J, Alonso MC, Balmana J (2010) Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam Cancer 9(3):297–304

    Article  PubMed  Google Scholar 

  21. Ropka ME, Wenzel J, Phillips EK, Siadaty M, Philbrick JT (2006) Uptake rates for breast cancer genetic testing: a systematic review. Cancer Epidemiol Biomarkers Prev 15(5):840–855

    Article  PubMed  Google Scholar 

  22. Schwartz MD, Hughes C, Roth J, Main D, Peshkin BN, Isaacs C, Kavanagh C, Lerman C (2000) Spiritual faith and genetic testing decisions among high-risk breast cancer probands. Cancer Epidemiol Biomarkers Prev 9(4):381–385

    CAS  PubMed  Google Scholar 

  23. Clark SB, Bluman LG, Borstelmann N, Regan K, Winer EP, Rimer BK, Skinner CS (2000) Patient motivation, satisfaction, and coping in genetic counseling and testing for BRCA1 and BRCA2. J Genet Couns 9(3):219–235

    Article  Google Scholar 

  24. Wood ME, Mullineaux L, Rahm AK, Fairclough D, Wenzel L (2000) Impact of BRCA1 testing on women with cancer: a pilot study. Genet Test 4(3):265–272

    Article  CAS  PubMed  Google Scholar 

  25. Bouchardy C, Benhamou S, Schaffar R, Verkooijen HM, Fioretta G, Schubert H, Vinh-Hung V, Soria JC, Vlastos G, Rapiti E (2011) Lung cancer mortality risk among breast cancer patients treated with anti-estrogens. Cancer 117(6):1288–1295

    Article  PubMed  Google Scholar 

  26. Curado MP, Edwards B, Shin HR, Storm H, Ferlay J, Heanue M, Boyle P (2007) Cancer incidence in five continents, vol IX. IARC Scientific Publications No 160, Lyon

    Google Scholar 

  27. Percy C, Fritz A, Jack A, Shanmugaratnam K, Sobin L, Parkin DM, Whelan S (2000) International classification of diseases for oncology, 3rd edn. World Health Organization, Geneva

  28. Sobin LH, Wittekind Ch (2002) TNM classification of malignant tumours, UICC, 6th edn. Wiley, New York

    Google Scholar 

  29. Verkooijen HM, Chappuis PO, Rapiti E, Vlastos G, Fioretta G, Sarp S, Sappino AP, Schubert H, Bouchardy C (2006) Impact of familial risk factors on management and survival of early-onset breast cancer: a population-based study. Br J Cancer 94(2):231–238

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  30. Bosompra K, Flynn BS, Ashikaga T, Rairikar CJ, Worden JK, Solomon LJ (2000) Likelihood of undergoing genetic testing for cancer risk: a population-based study. Prev Med 30(2):155–166

    Article  CAS  PubMed  Google Scholar 

  31. Bottorff JL, Ratner PA, Balneaves LG, Richardson CG, McCullum M, Hack T, Chalmers K, Buxton J (2002) Women’s interest in genetic testing for breast cancer risk: the influence of sociodemographics and knowledge. Cancer Epidemiol Biomarkers Prev 11(1):89–95

    PubMed  Google Scholar 

  32. Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C (2013) Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests. Breast Cancer Res Treat 141(1):135–144

    Article  CAS  PubMed  Google Scholar 

  33. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994) Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343(8899):692–695

    Article  CAS  PubMed  Google Scholar 

  34. Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11):2318–2324

    Article  CAS  PubMed  Google Scholar 

  35. Whittemore AS, Gong G, Itnyre J (1997) Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 60(3):496–504

    CAS  PubMed Central  PubMed  Google Scholar 

  36. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83(10):1301–1308

    Google Scholar 

  37. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (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. Am J Hum Genet 72(5):1117–1130

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  38. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333

    Article  PubMed Central  PubMed  Google Scholar 

  39. Rebbeck TR, Kauff ND, Domchek SM (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101(2):80–87

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  40. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  41. NCCN Clinical Practice Guidelines in Oncology (2010) Genetic/familial high-risk assessment: breast and ovarian, version 4.2013. www.nccn.org

  42. ACOG Committee on Pratice Bulletins (2009) Hereditary breast and ovarian cancer syndrome. Gynecol Oncol 113(1):6–11

    Article  Google Scholar 

  43. Gadzicki D, Evans DG, Harris H, Julian-Reynier C, Nippert I, Schmidtke J, Tibben A, van Asperen CJ, Schlegelberger B (2011) Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet 2(2):53–69

    Article  PubMed Central  PubMed  Google Scholar 

  44. Zon RT, Goss E, Vogel VG, Chlebowski RT, Jatoi I, Robson ME, Wollins DS, Garber JE, Brown P, Kramer BS, American Society of Clinical Oncology (2009) American Society of Clinical Oncology policy statement: the role of the oncologist in cancer prevention and risk assessment. J Clin Oncol 27(6):986–9931

    Article  PubMed Central  PubMed  Google Scholar 

  45. Bouchardy C, Benhamou S, Fioretta G, Verkooijen HM, Chappuis PO, Neyroud-Caspar I, Castiglione M, Vinh-Hung V, Vlastos G, Rapiti E (2011) Risk of second breast cancer according to estrogen receptor status and family history. Breast Cancer Res Treat 127(1):233–241

    Article  CAS  PubMed  Google Scholar 

  46. Verkooijen HM, Fioretta G, Chappuis PO, Vlastos G, Sappino AP, Benhamou S, Bouchardy C (2004) Set-up of a population-based familial breast cancer registry in Geneva, Switzerland: validation of first results. Ann Oncol 15(2):350–353

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was financially supported by grants KLS 02544-02-2010 and KLS 2946-02-2012 from the Swiss Cancer League. This investigation was also supported by a grant of the Geneva Cancer League and Fondation Dr. Henri Dubois-Ferrière Dinu Lipatti.

Conflict of interest

The authors have no conflicts of interest and do not have any disclosures to declare.

Author information

Authors and Affiliations

  1. Department of Genetic and Laboratory Medicine, University Hospitals of Geneva, 4 rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland

    Aurélie Ayme

  2. Oncogenetics and Cancer Prevention Unit, Division of Oncology, University Hospitals of Geneva, 30 Bd de la Cluse, 1211, Geneva 14, Switzerland

    Aurélie Ayme, Valeria Viassolo & Pierre O. Chappuis

  3. Geneva Cancer Registry, Institute for Social and Preventive Medicine, Geneva University, 55 Bd de la Cluse, 1205, Geneva, Switzerland

    Elisabetta Rapiti, Gérald Fioretta, Hyma Schubert, Christine Bouchardy & Simone Benhamou

  4. Division of Genetic Medicine, University Hospitals of Geneva, 1 rue Michel-Servet, 1211, Geneva 4, Switzerland

    Pierre O. Chappuis

  5. INSERM, U946, 27 rue Juliette Dodu, 75010, Paris, France

    Simone Benhamou

Authors
  1. Aurélie Ayme
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Valeria Viassolo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Elisabetta Rapiti
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Gérald Fioretta
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hyma Schubert
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Christine Bouchardy
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Pierre O. Chappuis
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Simone Benhamou
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Simone Benhamou.

Additional information

Aurélie Ayme and Valeria Viassolo made an equal contribution to this study.

Pierre O. Chappuis and Simone Benhamou jointly directed this work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ayme, A., Viassolo, V., Rapiti, E. et al. Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. Breast Cancer Res Treat 144, 379–389 (2014). https://doi.org/10.1007/s10549-014-2864-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-014-2864-3

Keywords

Search

Navigation