Accuracy of BRCA1/2 Mutation Prediction Models for Different Ethnicities and Genders: Experience in a Southern Chinese Cohort

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...

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Bibliographic Details
Published in:World journal of surgery 2012-04, Vol.36 (4), p.702-713
Main Authors: Kwong, Ava, Wong, Connie H. N., Suen, Dacita T. K., Co, Michael, Kurian, Allison W., West, Dee W., Ford, James M.
Format: Article
Language:English
Subjects:
Abdominal Surgery
Adolescent
Adult
Aged
Aged, 80 and over
Asian Continental Ancestry Group
BRCA Mutation Carrier
BRCA2 Mutation
Breast Neoplasms - ethnology
Breast Neoplasms - genetics
Breast Neoplasms, Male - ethnology
Breast Neoplasms, Male - genetics
Cardiac Surgery
Female
General Surgery
Genes, BRCA1
Genes, BRCA2
Humans
Male
Male Breast Cancer
Medicine
Medicine & Public Health
Middle Aged
Mutation
Mutation Carrier
Ovarian Neoplasms - ethnology
Ovarian Neoplasms - genetics
Prognosis
Prophylactic Contralateral Mastectomy
Risk Assessment
Surgery
Thoracic Surgery
Vascular Surgery
Young Adult
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Summary: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
ISSN:0364-2313
1432-2323
DOI:10.1007/s00268-011-1406-y