Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

Anne Brédart1, Jean–Luc Kop2, Antonis C. Antoniou3, Alex Cunningham3, Antoine De Pauw4, Marc Tischkowitz5, Hans Ehrencrona6, Marjanka K. Schmidt7, Sylvie Dolbeault8, Kerstin Rhiem9, Douglas F. Easton3, Peter Devilee10, Dominique Stoppa‐Lyonnet4, Rita Schmutlzer9
1Institut Curie, Supportive Care Department, Psycho-Oncology Unit, 26 rue d’Ulm, 75005 Cedex 05, Paris, France
2Université de Lorraine, 2LPN-CEMA, 23 boulevard Albert 1er-BP, 60446–54001 Cedex, Nancy, France
3Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Worts Causeway, CB1 8RN, University of Cambridge, Cambridge, UK
4Institut Curie, Cancer Genetic Clinic, 26 rue d’Ulm, 75005 Paris Cedex 05, France
5Department of Medical Genetics, University of Cambridge, Box 238, Level 6 Addenbrooke’s Treatment Centre Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
6Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services and Department of Clinical Genetics, Lund University, 221 85, Lund, Sweden
7Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066, CX, Amsterdam, The Netherlands
8CESP, University Paris-Sud, UVSQ, INSERM, University Paris-Saclay, 16 avenue Paul Vaillant-Couturier, 94807, Villejuif, France
9Familial Breast and Ovarian Cancer Centre, Cologne University Hospital and Faculty of Medicine, Kerpener Str. 34, I 50931, Cologne, Germany
10Department of Human Genetics, Department of Pathology, Leiden University Medical Centre, S4-P, P.O. Box 9600, 2300 RC, Leiden, The Netherlands

Tóm tắt

Từ khóa


Tài liệu tham khảo

Albada A, Vernooij M, van Osch L, Pijpe A, van Dulmen S, Ausems MG (2014) Does and should breast cancer genetic counselling include lifestyle advice? Familial Cancer 13:35–44

Amara N, Blouin-Bougie J, Jbilou J, Halilem N, Simard J, Landry R (2015) The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes. Familial Cancer 15(1):1–17

Amir E, Freedman OC, Seruga B, Evans DG (2010) Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst 102:680–691

Antoniou AC, Pharoah PP, Smith P, Easton DF (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 91:1580–1590

Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, Shanley S, Pichert G, Izatt L, Rose S, Douglas F, Eccles D, Morrison PJ, Scott J, Zimmern RL, Easton DF, Pharoah PD (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 45:425–431

Bredart A, Kop JL, Antoniou AC, Cunningham AP, De Pauw A, Tischkowitz M, Ehrencrona H, Dolbeault S, Robieux L, Rhiem K, Easton DF, Devilee P, Stoppa-Lyonnet D, Schmutlzer R (2018) Use of the BOADICEA web application in clinical practice: appraisals by clinicians from various countries. Familial Cancer 17(1): 31−41

Brentnall AR, Harkness EF, Astley SM, Donnelly LS, Stavrinos P, Sampson S, Fox L, Sergeant JC, Harvie MN, Wilson M, Beetles U, Gadde S, Lim Y, Jain A, Bundred S, Barr N, Reece V, Howell A, Cuzick J, Evans DG (2015) Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort. Breast Cancer Res 17(1):147

Cintolo-Gonzalez JA, Braun D, Blackford AL, Mazzola E, Acar A, Plichta JK, Griffin M, Hughes KS (2017) Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications. Breast Cancer Res Treat 164(2):263–284

Claus EB, Risch N, Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48:232–242

Cottrell E, Roddy E, Rathod T, Thomas E, Porcheret M, Foster NE (2015) Maximising response from GPs to questionnaire surveys: do length or incentives make a difference? BMC Med Res Methodol 15:3

Couch FJ, Nathanson KL, Offit K (2014) Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science 343:1466–1470

Cunningham AP, Antoniou AC, Easton DF (2012) Clinical software development for the web: lessons learned from the BOADICEA project. BMC Med Inform Decis Mak 12:30

Cuzick J, Brentnall AR, Segal C, Byers H, Reuter C, Detre S, Lopez-Knowles E, Sestak I, Howell A, Powles TJ, Newman WG, Dowsett M (2016) Impact of a panel of 88 single nucleotide polymorphisms on the risk of breast cancer in high-risk women: results from two randomized tamoxifen prevention trials. J Clin Oncol 35(7):743–750

DeSantis CE, Bray F, Ferlay J, Lortet-Tieulent J, Anderson BO, Jemal A (2015) International variation in female breast cancer incidence and mortality rates. Cancer Epidemiol Biomark Prev 24:1495–1506

Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD (2015) Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372:2243–2257

Edwards PJ, Roberts I, Clarke MJ, Diguiseppi C, Wentz R, Kwan I, Cooper R, Felix LM, Pratap S (2009) Methods to increase response to postal and electronic questionnaires. Cochrane Database Syst Rev 8(3):MR000008

Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F (2004) A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 41:474–480

Evans DG, Lalloo F, Wallace A, Rahman N (2005) Update on the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 42(7):e39

Evans DG, Howell A (2007) Breast cancer risk-assessment models. Breast Cancer Res 9(5): 213

Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20:1480–1490

Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ (1989) Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 81:1879–1886

Harvie M, Howell A, Evans DG (2015) Can diet and lifestyle prevent breast cancer: what is the evidence? Am Soc Clin Oncol Educ Book 35:e66–e73

Husson F, Lê S, Pagès J (2011) Exploratory multivariate analysis by example using R. CRC Press, Boca Raton

Jolliffe IT (2002) Principal component analysis. Springer, Second Edition

Julian-Reynier C, Bouhnik AD, Evans DG, Harris H, van Asperen CJ, Tibben A, Schmidtke J, Nippert I (2015) General practitioners and breast surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles. BMC Cancer 15:243

Kurian AW, Antoniou AC, Domchek SM (2016) Refining breast cancer risk stratification: additional genes, additional information. Am Soc Clin Oncol Educ Book 35:44–56

Lecarpentier J, Nogues C, Mouret-Fourme E, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Bonadona V, Fricker JP, Berthet P, Caron O, Coupier I, Pujol P, Faivre L, Gesta P, Eisinger F, Mari V, Gladieff L, Lortholary A, Luporsi E, Leroux D, Venat-Bouvet L, Maugard CM, Colas C, Tinat J, Lasset C, Andrieu N (2015) Breast cancer risk associated with estrogen exposure and truncating mutation location in BRCA1/2 carriers. Cancer Epidemiol Biomark Prev 24:698–707

Lee AJ, Cunningham AP, Kuchenbaecker KB, Mavaddat N, Easton DF, Antoniou AC (2014) BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface. Br J Cancer 110:535–545

Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC (2016) Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet Med 18:1190–1198

LimeSurvey Project Team, Carsten Schmitz (2015). LimeSurvey: an open source survey tool. LimeSurvey Project Hamburg, Germany. URL http://www.limesurvey.org

MacInnis RJ, Bickerstaffe A, Apicella C, Dite GS, Dowty JG, Aujard K, Phillips KA, Weideman P, Lee A, Terry MB, Giles GG, Southey MC, Antoniou AC, Hopper JL (2013) Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre. Br J Cancer 109:1296–1301

Mazzola E, Blackford A, Parmigiani G, Biswas S (2015) Recent enhancements to the genetic risk prediction model BRCAPRO. Cancer Inform 14:147–157

Meads C, Ahmed I, Riley RD (2012) A systematic review of breast cancer incidence risk prediction models with meta-analysis of their performance. Breast Cancer Res Treat 132:365–377

Padamsee TJ, Wills CE, Yee LD, Paskett ED (2017) Decision making for breast cancer prevention among women at elevated risk. Breast Cancer Res 19:34

Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145–158

Parmigiani G, Chen S, Iversen ES Jr, Friebel TM, Finkelstein DM, Anton-Culver H, Ziogas A, Weber BL, Eisen A, Malone KE, Daling JR, Hsu L, Ostrander EA, Peterson LE, Schildkraut JM, Isaacs C, Corio C, Leondaridis L, Tomlinson G, Amos CI, Strong LC, Berry DA, Weitzel JN, Sand S, Dutson D, Kerber R, Peshkin BN, Euhus DM (2007) Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med 147:441–450

Quante AS, Whittemore AS, Shriver T, Strauch K, Terry MB (2012) Breast cancer risk assessment across the risk continuum: genetic and nongenetic risk factors contributing to differential model performance. Breast Cancer Res 14(6):R144

Quante AS, Herz J, Whittemore AS, Fischer C, Strauch K, Terry MB (2015) Assessing absolute changes in breast cancer risk due to modifiable risk factors. Breast Cancer Res Treat 152:193–197

R Core Team (2016) R: a language and environment for statistical computing. In: R Foundation for Statistical Computing, Vienna, Austria URL https://www.R-project.org/

Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Thomas A et al (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278:1242–1250

Tabachnick BG, Fidell LS (2013) Using multivariate statistics, 6th edn. Pearson, Boston

Tyrer J, Duffy SW, Cuzick J (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23:1111–1130