作者: Edward S. Y. Wong , Sandhya Shekar , Claire H. T. Chan , Lewis Z. Hong , Suk-Yean Poon
DOI: 10.1371/JOURNAL.PONE.0134408
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摘要: Purpose The National Comprehensive Cancer Network (NCCN) has proposed guidelines for the genetic testing of BRCA1 and BRCA2 genes, based on studies in western populations. This current study assessed potential predictive factors BRCA mutation probability, an Asian population. Methods A total 359 breast cancer patients, who presented with either a family history (FH) and/or ovarian or early onset cancer, were accrued at Center Singapore (NCCS). The relationships between clinico-pathological features mutational status calculated using Chi-squared test binary logistic regression analysis. Results Of 45 (12.5%) had deleterious damaging missense mutations BRCA2. more likely to be found ER-negative than ER-positive patients (P=0.01). Moreover, diagnosed earlier age (40 vs. 48 years, P=0.008). Similarly, triple-negative (TNBC) have (P=0.001) that these relatively younger non-TNBC (38 46 P=0.028). Our analysis confirmed status, TNBC FH hereditary (HBOC) are strong predicting likelihood having mutations. Conclusions Our provides evidence may benefit from testing, particularly (<40 years) those HBOC, patients.