Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: Experience in a southern Chinese cohort
| Autor: | Allison W. Kurian, Connie H. N. Wong, Dacita T. K. Suen, James M. Ford, Ava Kwong, Dee W. West, Michael Co |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent endocrine system diseases education Genes BRCA2 Ethnic group Genes BRCA1 Breast Neoplasms Risk Assessment Article Breast Neoplasms Male Brca1 2 mutation Young Adult Asian People medicine Humans skin and connective tissue diseases health care economics and organizations Aged Gynecology Aged 80 and over Ovarian Neoplasms business.industry Southern chinese Middle Aged Prognosis Cohort Mutation (genetic algorithm) Mutation Surgery Female business Predictive modelling Demography |
| Zdroj: | World Journal of Surgery |
| Popis: | Background: 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 published_or_final_version |
| Databáze: | OpenAIRE |
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