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Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients.
Breast Cancer Res Treat. 2009 Aug; 116(3):563-70.BC

Abstract

PURPOSE

Established models (Penn, Myraid and BRCApro) are useful of estimating the probability that a person has a BRCA mutation. But the value of these models in Chinese population is unclear. The aim of the study is to evaluate the performance of three models on the assisting in pre-test genetic risk counseling.

METHODS

Three risk assessment models, Penn II, Myriad and BRCApro, were applied to 212 familial breast cancer patients who had undergone BRCA1/2 mutation analysis. Sensitivity, specificity, positive and negative predictive values, likelihood ratios and area under the receiver operator characteristic (ROC) curve were calculated for each model.

RESULTS

Myriad showed a better ROC curve than BRCApro either for BRCA1 or BRCA1/2 combination mutation prediction, but BRCApro had a higher positive likelihood ratio when using 10% as the probability threshold. The performance of three models improved when they were evaluated in 66 patients from high risk families, presenting increased ROC and positive likelihood ratio. Especially that of BRCApro for BRCA2, the ROC was increased to 0.716 and its positive likelihood was 5.6.

CONCLUSION

Three models had the similar impact on the pre-test probability of BRCA mutation. But at a 10% cutoff point, BRCApro had the best BRCA mutation carrier prediction value. The performance of BRCApro for BRCA2 mutation prediction was improved when it was restricted in patients from high risk families.

Authors+Show Affiliations

Department of Oncology, Breast Cancer Institute, Cancer Hospital/Cancer Institute, Shanghai Medical College, Institutes of Biomedical Science, Fudan University, Shanghai 200032, People's Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Evaluation Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18807178

Citation

Rao, Nan-Yan, et al. "Evaluating the Performance of Models for Predicting the BRCA Germline Mutations in Han Chinese Familial Breast Cancer Patients." Breast Cancer Research and Treatment, vol. 116, no. 3, 2009, pp. 563-70.
Rao NY, Hu Z, Yu JM, et al. Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Res Treat. 2009;116(3):563-70.
Rao, N. Y., Hu, Z., Yu, J. M., Li, W. F., Zhang, B., Su, F. X., Wu, J., Shen, Z. Z., Huang, W., & Shao, Z. M. (2009). Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Research and Treatment, 116(3), 563-70. https://doi.org/10.1007/s10549-008-0181-4
Rao NY, et al. Evaluating the Performance of Models for Predicting the BRCA Germline Mutations in Han Chinese Familial Breast Cancer Patients. Breast Cancer Res Treat. 2009;116(3):563-70. PubMed PMID: 18807178.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. AU - Rao,Nan-Yan, AU - Hu,Zhen, AU - Yu,Jin-Ming, AU - Li,Wen-Feng, AU - Zhang,Bin, AU - Su,Feng-Xi, AU - Wu,Jiong, AU - Shen,Zhen-Zhou, AU - Huang,Wei, AU - Shao,Zhi-Ming, Y1 - 2008/09/19/ PY - 2008/08/12/received PY - 2008/09/02/accepted PY - 2008/9/23/pubmed PY - 2009/9/30/medline PY - 2008/9/23/entrez SP - 563 EP - 70 JF - Breast cancer research and treatment JO - Breast Cancer Res Treat VL - 116 IS - 3 N2 - PURPOSE: Established models (Penn, Myraid and BRCApro) are useful of estimating the probability that a person has a BRCA mutation. But the value of these models in Chinese population is unclear. The aim of the study is to evaluate the performance of three models on the assisting in pre-test genetic risk counseling. METHODS: Three risk assessment models, Penn II, Myriad and BRCApro, were applied to 212 familial breast cancer patients who had undergone BRCA1/2 mutation analysis. Sensitivity, specificity, positive and negative predictive values, likelihood ratios and area under the receiver operator characteristic (ROC) curve were calculated for each model. RESULTS: Myriad showed a better ROC curve than BRCApro either for BRCA1 or BRCA1/2 combination mutation prediction, but BRCApro had a higher positive likelihood ratio when using 10% as the probability threshold. The performance of three models improved when they were evaluated in 66 patients from high risk families, presenting increased ROC and positive likelihood ratio. Especially that of BRCApro for BRCA2, the ROC was increased to 0.716 and its positive likelihood was 5.6. CONCLUSION: Three models had the similar impact on the pre-test probability of BRCA mutation. But at a 10% cutoff point, BRCApro had the best BRCA mutation carrier prediction value. The performance of BRCApro for BRCA2 mutation prediction was improved when it was restricted in patients from high risk families. SN - 1573-7217 UR - https://www.unboundmedicine.com/medline/citation/18807178/Evaluating_the_performance_of_models_for_predicting_the_BRCA_germline_mutations_in_Han_Chinese_familial_breast_cancer_patients_ L2 - https://doi.org/10.1007/s10549-008-0181-4 DB - PRIME DP - Unbound Medicine ER -