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Title: Predictive factors for BRCA1 and BRCA2 genetic testing in an asian clinic-based population
Authors: Wong E.S.Y.
Shekar S.
Chan C.H.T.
Hong L.Z.
Poon S.-Y.
Silla T. 
Lin C.
Kumar V. 
Davila S. 
Voorhoeve M. 
Thike A.A. 
Ho G.H. 
Yap Y.S. 
Tan P.H. 
Tan M.-H. 
Ang P.
Lee A.S.G. 
Keywords: BRCA1 protein
BRCA2 protein
epidermal growth factor receptor 2
estrogen receptor
progesterone receptor
estrogen receptor
cancer classification
early cancer
estrogen receptor positive breast cancer
family history
gene sequence
genetic association
genetic screening
major clinical study
missense mutation
next generation sequencing
onset age
ovary cancer
predictive value
progesterone receptor positive breast cancer
Sanger sequencing
triple negative breast cancer
tumor suppressor gene
Asian continental ancestry group
Breast Neoplasms
chi square distribution
dna mutational analysis
genetic screening
middle aged
risk factor
statistical model
statistics and numerical data
Triple Negative Breast Neoplasms
young adult
Age Factors
Asian Continental Ancestry Group
Breast Neoplasms
Chi-Square Distribution
DNA Mutational Analysis
Genes, BRCA1
Genes, BRCA2
Genetic Testing
Logistic Models
Middle Aged
Mutation, Missense
Predictive Value of Tests
Receptors, Estrogen
Risk Factors
Triple Negative Breast Neoplasms
Young Adult
Issue Date: 2015
Publisher: Public Library of Science
Citation: Wong E.S.Y., Shekar S., Chan C.H.T., Hong L.Z., Poon S.-Y., Silla T., Lin C., Kumar V., Davila S., Voorhoeve M., Thike A.A., Ho G.H., Yap Y.S., Tan P.H., Tan M.-H., Ang P., Lee A.S.G. (2015). Predictive factors for BRCA1 and BRCA2 genetic testing in an asian clinic-based population. PLoS ONE 10 (7) : e0134408. ScholarBank@NUS Repository.
Abstract: Purpose The National Comprehensive Cancer Network (NCCN) has proposed guidelines for the genetic testing of the BRCA1 and BRCA2 genes, based on studies in western populations. This current study assessed potential predictive factors for BRCA mutation probability, in an Asian population. Methods A total of 359 breast cancer patients, who presented with either a family history (FH) of breast and/or ovarian cancer or early onset breast cancer, were accrued at the National Cancer Center Singapore (NCCS). The relationships between clinico-pathological features and mutational status were calculated using the Chi-squared test and binary logistic regression analysis. Results Of 359 patients, 45 (12.5%) had deleterious or damaging missense mutations in BRCA1 and/or BRCA2. BRCA1 mutations were more likely to be found in ER-negative than ERpositive breast cancer patients (P=0.01). Moreover, ER-negative patients with BRCA mutations were diagnosed at an earlier age (40 vs. 48 years, P=0.008). Similarly, triple-negative breast cancer (TNBC) patients were more likely to have BRCA1 mutations (P=0.001) and that these patients were diagnosed at a relatively younger age than non-TNBC patients (38 vs. 46 years, P=0.028). Our analysis has confirmed that ER-negative status, TNBC status and a FH of hereditary breast and ovarian cancer (HBOC) are strong factors predicting the likelihood of having BRCA mutations. Conclusions Our study provides evidence that TNBC or ER-negative patients may benefit from BRCA genetic testing, particularly younger patients (<40 years) or those with a strong FH of HBOC, in Asian patients. Copyright © 2015 Wong et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits nrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0134408
Appears in Collections:Staff Publications

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