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01-04-2014 | Epidemiology

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

Authors: Aurélie Ayme, Valeria Viassolo, Elisabetta Rapiti, Gérald Fioretta, Hyma Schubert, Christine Bouchardy, Pierre O. Chappuis, Simone Benhamou

Published in: Breast Cancer Research and Treatment | Issue 2/2014

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.

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):800–809PubMedCrossRef

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

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):676–689PubMedCentralPubMedCrossRef

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

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):893–901PubMedCrossRef

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

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

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

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):377–382PubMedCrossRef

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):158–164PubMedCrossRef

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):5887–5892PubMedCrossRef

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):2404–2410PubMedCentralPubMedCrossRef

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):1384–1392PubMedCentralPubMedCrossRef

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):812–8225PubMedCrossRef

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):504–510PubMedCrossRef

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):522–527PubMedCrossRef

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

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):115–119PubMedCrossRef

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):124–132PubMedCrossRef

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):297–304PubMedCrossRef

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):840–855PubMedCrossRef

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):381–385PubMed

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):219–235CrossRef

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):265–272PubMedCrossRef

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):1288–1295PubMedCrossRef

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

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

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):231–238PubMedCentralPubMedCrossRef

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):155–166PubMedCrossRef

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):89–95PubMed

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):135–144PubMedCrossRef

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):692–695PubMedCrossRef

34.

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

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):496–504PubMedCentralPubMed

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

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):1117–1130PubMedCentralPubMedCrossRef

38.

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

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):80–87PubMedCentralPubMedCrossRef

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):967–975PubMedCentralPubMedCrossRef

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):6–11CrossRef

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):53–69PubMedCentralPubMedCrossRef

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):986–9931PubMedCentralPubMedCrossRef

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):233–241PubMedCrossRef

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):350–353PubMedCrossRef

Title: Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study
Authors: Aurélie Ayme
Valeria Viassolo
Elisabetta Rapiti
Gérald Fioretta
Hyma Schubert
Christine Bouchardy
Pierre O. Chappuis
Simone Benhamou
Publication date: 01-04-2014
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 2/2014
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-014-2864-3

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