Comparison of risk assessment models of BRCA1 and BRCA2 mutation carrier in patients with breast cancer.
DOI:
https://doi.org/10.26641/2307-0404.2013.4.21521Keywords:
risk assessment, BOADICEA, Manchester scoring system, BRCA1, BRCA2Abstract
Analysis of efficiency of the algorithm BOADICEA using and Manchester scoring system to predict the carrier of BRCA1 and BRCA2 mutations in Ukranian patients with breast cancer was performed. Materials for this study were the results of clinical, imunogistological, pathogistological, genealogical, molecular genetic researches of 146 patients with breast cancer. Calculations of mutations risk were performed using BOADICEA algorithm and Manchester scoring system. In the total group of patients the area under the curve while predicting BRCA1 mutations with algorithm BOADICEA was 0.86, with Manchester scoring system - 0.84, and in calculation of the combined risk of BRCA mutations - 0.83 and 0.84, respectively. However, statistical difference between the areas of algorithms has not been established (p> 0.05), it indicates to the same discriminatory power of the test models. Better sensitivity, specificity, positive and negative predictive value of results of BOADICEA algorithm was reached in 6% of BRCA1 probability and in 8% threshold of BRCA1/2 mutations. The Manchester scoring system has showed the best operating characteristics with 6 and 13-point probability of BRCA1 and BRCA1/2 mutations respectively. Patients with probability of mutations with such thresholds may be offered molecular study of pathogenic alleles.References
Клинико-молекулярные аспекты наследствен¬ного рака молочной железы / Л.Н. Любченко, С.М. По¬р¬тной, В.В. Брюзгин [и др.] // Молекулярная медицина. − 2007. − №1. − С. 8-15.
Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing / D. G. R. Evans, F. Lalloo, A. Cramer [et al.] // J. Med. Genet. – 2009. – Vol. 46. – P. 811–817.
A Beta version of the new BOADICEA Web program (BWA v3) [Electronic resource]. – Mode of access: ¬https://pluto.srl.cam.ac.uk/cgi-bin/bd3/v3beta1/ bd. cgi.
BRCA in breast cancer: ESMO clinical recom¬mendations practice guidelines. / J. Balmaña, O. Díez, M. Rubio, M. Castiglione // Ann. Oncol. – 2010. – Vol. 21, Suppl. 5. – P. 20–22.
BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia / A.O. Rodríguez, M. Llacuachaqui, G. G. Pardo [et al.] // Gynecol. Oncol. − 2012. − Vol. 124. − P. 236–243.
BRCA1/BRCA2 mutation status and clinical-patho¬logic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy / L. Ottini, P. Rizzolo, I. Zanna [et al.] // Breast Cancer Res. Treat. − 2009. − Vol. 116. − P. 577–586.
Campeau P. M. Hereditary breast cancer: New genetic developments, new therapeutic avenues / P.M. Cam¬peau, W.D. Foulkes, M.D. Tischkowitz // Hu¬man Genetics. – 2008. – Vol. 124, N 1. – P. 31–42.
Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer (in Russian) / D.P. Atchley, C.T. Albarracin, A. Lopez [et al.] // J. Clin. Oncol. – 2008. – Vol. 26. – P. 4282–4288.
Demler O. V. Misuse of DeLong test to compare AUCs for nested models / O.V. Demler, M.J. Pencina, R.S. D'Agostino // Stat. Med. – 2012. – Vol. 31, N. 23. – P. 2577–2587.
Evaluation of BRCA1 and BRCA2 mutation pre¬valence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer / J. Simard, M. Dumont, A. Moi¬san [et al.] // J. Med. Genet. − 2007. − Vol. 44. − P. 107–121.
Evaluation of the BOADICEA risk assessment model in women with a family history of breast cancer / A.K. Ståhlbom, H. Johansson, A. Liljegren [et al.] // Fam. Cancer. − 2012. − Vol. 11, N 1. − P. 33–40.
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer / S. Zhang, R. Royer, S. Li [et al.] // Gynecol. Oncol. − 2011. − Vol. 121. − P. 353–357.
National Institute for Health and Clinical Excel¬lence. Familial breast cancer: The classification and care of women at risk of familial breast сancer in primary, secondary and tertiary care // Clinical guideline 14. − London: NICE, 2008.
Optimal selection of individuals for BRCA mu¬tation testing: a comparison of available methods / P.A. James, R. Doherty, M. Harris [et al.] // J. Clin. Oncol. − 2006. − Vol. 24. − P. 707–715.
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 / A.C. An¬toniou, R. Hardy, L. Walker [et al.] // J. Med. Genet. − 2008. − Vol. 45, No. 7. − P. 425-431.
Shah P. Clinicopathological study of male breast carcinoma: 24 years of experience / P. Shah, I. Robbani, O. Shah // Ann. Saudi Med. − 2009. − Vol. 29. − P. 288–293.
Simple and Rapid Detection of BRCA1 and BRCA2 Mutations by Multiplex Mutagenically Separated PCR / P. C. Chan, B. Y. Wong, H. Ozcelik, D. E. Cole // Clin. Chemistry. − 1999. − Vol. 45, N 8. − P. 1285–1287.
Understanding and using sensitivity, specificity and predictive values / R. Parikh, A. Mathai, S. Parikh[et al.] // Indian J. Ophthalmol. − 2008. − Vol. 56. − P. 45-50.
Liubchenco L, Portnoy M, Bryuzgin V. Clinical and molecular aspects of hereditary breast cancer (in Rus¬sian). Molecular Medicine. 2007;1:8-15.
Evans DGR, Lalloo F, Cramer A. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing J. Med. Genet. 2009;46:811-7.
https://pluto.srl.cam.ac.uk/cgi-bin/bd3/v3beta1/bd.cgi.
Balmaña J, Díez O, Rubio M, Castiglione M. BRCA in breast cancer: ESMO Clinical Recom¬men¬da¬tions Practice Guidelines. Ann. Oncol. 2010;21(5):20-2.
Rodríguez AO, Llacuachaqui M. BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecol Oncol. 2012;124:236–43.
Ottini L, Rizzolo P, Zanna I. BRCA1/BRCA2 mu¬tation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-ba¬sed study in central Italy. Breast Cancer Res Treat. 2009;116: 577–86.
Campeau PM, Foulkes WD, Tischkowitz MD. He¬reditary breast cancer: New genetic developments, new the¬rapeutic avenues. Human Genetics. 2008;124(1):31–42.
Atchley DP, Albarracin CT, Lopez A. Clinical and morphological characteristics of the BRCA-positive and BRCA-negative patients with breast cancer (in Rus¬sian). Journal of Clinscal Oncology. 2008;26:312-8.
Demler OV, Pencina MJ, D'Agostino RS. Misuse of DeLong test to compare AUCs for nested models. Stat Med. 2012;31(23):2577–87.
Simard J, Dumont M, Moisan A. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Ca¬nadian families with high risk of breast and ovarian cancer. J Med Genet. 2007;44:107–21.
Ståhlbom AK, Johansson H, Liljegren A. Eva¬luation of the BOADICEA risk assessment model in wo¬men with a family history of breast cancer. Fam Cancer. 2012;11(1):33–40.
Zhang S, Royer R, Li S. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol. 2011;121:353–7.
National Institute for Health and Clinical Excel¬lence. Familial breast cancer: The classification and care of women at risk of familial breast сancer in primary, secondary and tertiary care. London: NICE; 2008.
James PA, Doherty R, Harris M. Optimal selec¬tion of individuals for BRCA mutation testing: a compa¬ri¬son of available methods. J Clin Oncol. 2006;24:707–15.
Antoniou AC, Hardy R, Walker L. 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 ge¬netics clinics. J Med Genet. 2008;45(7):425-31.
Shah P, Robbani I, Shah O. Clinicopathological study of male breast carcinoma: 24 years of experience. Ann Saudi Med. 2009;29:288–93.
Chan PC, Wong BY, Ozcelik H, Cole DE. Simple and Rapid Detection of BRCA1 and BRCA2 Mutations by Multiplex Mutagenically Separated PCR. Clinical Chemistry. 1999;45(8):1285–7.
Parikh R, Mathai A, Parikh S. Understanding and using sensitivity, specificity and predictive values. Indian J. Ophthalmol. 2008;56:45-50.
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