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Article: Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: Experience in a southern Chinese cohort

TitleAccuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: Experience in a southern Chinese cohort
Authors
Issue Date2012
PublisherSpringer New York LLC. The Journal's web site is located at http://link.springer.de/link/service/journals/00268/
Citation
World Journal Of Surgery, 2012, v. 36 n. 4, p. 702-713 How to Cite?
AbstractBackground: BRCA1/2 mutation prediction models (BRCAPRO, Myriad II, Couch, Shattuck-Eidens, BOADICEA) are well established in western cohorts to estimate the probability of BRCA1/2 mutations. Results: are conflicting in Asian populations. Most studies did not account for gender-specific prediction. We evaluated the performance of these models in a Chinese cohort, including males, before BRCA1/2 mutation testing. Methods: The five risk models were used to calculate the probability of BRCA mutations in probands with breast and ovarian cancers; 267 were non-BRCA mutation carriers (247 females and 20 males) and 43 were BRCA mutation carriers (38 females and 5 males). Results: Mean BRCA prediction scores for all models were statistically better for carriers than noncarriers for females but not for males. BRCAPRO overestimated the numbers of female BRCA1/2 mutation carriers at thresholds ≥20% but underestimated if <20%. BRCAPRO and BOADICEA underestimated the number of male BRCA1/2 mutation carriers whilst Myriad II underestimated the number of both male and female carriers. In females, BRCAPRO showed similar discrimination, as measured by the area under the receiver operator characteristic curve (AUC) for BRCA1/2 combined mutation prediction to BOADICEA, but performed better than BOADICEA in BRCA1 mutation prediction (AUC 93% vs. 87%). BOADICEA had the best discrimination for BRCA1/2 combined mutation prediction (AUC 87%) in males. Conclusions: The variation in model performance underscores the need for research on larger Asian cohorts as prediction models, and the possible need for customizing these models for different ethnic groups and genders. © The Author(s) 2012.
Persistent Identifierhttp://hdl.handle.net/10722/145590
ISSN
2015 Impact Factor: 2.523
2015 SCImago Journal Rankings: 1.375
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
Dr. Ellen Li Charitable Foundation
Kuok Foundation
Funding Information:

The authors thank Dr. Ellen Li Charitable Foundation and Kuok Foundation for their support for the work of The Hong Kong Hereditary Breast Cancer Family Registry (www.asiabreastregistry.com) and The Hong Kong Hereditary and High-Risk Breast Cancer Programme. They also thank Miss Ling Wong, Dr. Annie Chu, and Miss Elaine Tsui for their help in recruitment of patients for the study. Sincere thanks to Dr. Fian Law, Dr. L. P. Wong, Dr. Edmond S. K. Ma, and Hong Kong Sanatorium and Hospital for the support on genetic testing and the laboratory work. The authors thank doctors in other Hospital Authority-based hospitals and the private sector who have contributed in recruitment of patients for this study, including G. Au, K. L. L. Chan, M. C. M. Chan, W. C. Chan, S. Chan, C. Choi, L. S. Ho, B.Y.K. Lam, F. C. S. Leung, R. Leung, T.Y. Ng, H.Y.S. Ngan, M. Poon, J.W. Tsang, K. F. Tam, D. C. T. Wong, T. T. Wong, and M.W.L. Ying.

References

 

DC FieldValueLanguage
dc.contributor.authorKwong, Aen_HK
dc.contributor.authorWong, CHNen_HK
dc.contributor.authorSuen, DTKen_HK
dc.contributor.authorCo, Men_HK
dc.contributor.authorKurian, AWen_HK
dc.contributor.authorWest, DWen_HK
dc.contributor.authorFord, JMen_HK
dc.date.accessioned2012-02-28T01:56:16Z-
dc.date.available2012-02-28T01:56:16Z-
dc.date.issued2012en_HK
dc.identifier.citationWorld Journal Of Surgery, 2012, v. 36 n. 4, p. 702-713en_HK
dc.identifier.issn0364-2313en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145590-
dc.description.abstractBackground: BRCA1/2 mutation prediction models (BRCAPRO, Myriad II, Couch, Shattuck-Eidens, BOADICEA) are well established in western cohorts to estimate the probability of BRCA1/2 mutations. Results: are conflicting in Asian populations. Most studies did not account for gender-specific prediction. We evaluated the performance of these models in a Chinese cohort, including males, before BRCA1/2 mutation testing. Methods: The five risk models were used to calculate the probability of BRCA mutations in probands with breast and ovarian cancers; 267 were non-BRCA mutation carriers (247 females and 20 males) and 43 were BRCA mutation carriers (38 females and 5 males). Results: Mean BRCA prediction scores for all models were statistically better for carriers than noncarriers for females but not for males. BRCAPRO overestimated the numbers of female BRCA1/2 mutation carriers at thresholds ≥20% but underestimated if <20%. BRCAPRO and BOADICEA underestimated the number of male BRCA1/2 mutation carriers whilst Myriad II underestimated the number of both male and female carriers. In females, BRCAPRO showed similar discrimination, as measured by the area under the receiver operator characteristic curve (AUC) for BRCA1/2 combined mutation prediction to BOADICEA, but performed better than BOADICEA in BRCA1 mutation prediction (AUC 93% vs. 87%). BOADICEA had the best discrimination for BRCA1/2 combined mutation prediction (AUC 87%) in males. Conclusions: The variation in model performance underscores the need for research on larger Asian cohorts as prediction models, and the possible need for customizing these models for different ethnic groups and genders. © The Author(s) 2012.en_HK
dc.languageengen_US
dc.publisherSpringer New York LLC. The Journal's web site is located at http://link.springer.de/link/service/journals/00268/en_HK
dc.relation.ispartofWorld Journal of Surgeryen_HK
dc.rightsThe original publication is available at www.springerlink.com-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleAccuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: Experience in a southern Chinese cohorten_HK
dc.typeArticleen_HK
dc.identifier.emailKwong, A: avakwong@hkucc.hku.hken_HK
dc.identifier.authorityKwong, A=rp01734en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1007/s00268-011-1406-yen_HK
dc.identifier.pmid22290208-
dc.identifier.pmcidPMC3299960-
dc.identifier.scopuseid_2-s2.0-84863722903en_HK
dc.identifier.hkuros198673en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84863722903&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume36en_HK
dc.identifier.issue4en_HK
dc.identifier.spage702en_HK
dc.identifier.epage713en_HK
dc.identifier.isiWOS:000301591200002-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKwong, A=8913654300en_HK
dc.identifier.scopusauthoridWong, CHN=36447063800en_HK
dc.identifier.scopusauthoridSuen, DTK=8876971300en_HK
dc.identifier.scopusauthoridCo, M=54915588000en_HK
dc.identifier.scopusauthoridKurian, AW=6701674280en_HK
dc.identifier.scopusauthoridWest, DW=7401998438en_HK
dc.identifier.scopusauthoridFord, JM=7402915714en_HK

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