Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n = 937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations. In total, we acquired 223 patients with putative germline mutations, including 159 in BRCA1/2, 61 in 15 other BC susceptibility genes and 3 in both BRCA1/2 and non-BRCA1/2 gene. Major mutant non-BRCA1/2 genes were TP53 (n = 18), PALB2 (n = 11), CHEK2 (n = 6), ATM (n = 6) and BARD1 (n = 5). No factors predicted pathologic mutations in non-BRCA1/2 genes when treated as a whole. TP53 mutations were associated with HER-2 positive BC and younger age at diagnosis; and CHEK2 and PALB2 mutations were enriched in patients with luminal BC. Among high hereditary risk Chinese BC patients, 23.8% contained germline mutations, including 6.8% in non-BRCA1/2 genes. TP53 and PALB2 had a relatively high mutation rate (1.9 and 1.2%). Although no factors predicted for detrimental mutations in non-BRCA1/2 genes, some clinical features were associated with mutations of several particular genes.
We have demonstrated that Chinese breast pathology reports can be automatically parsed into structured data using standard machine learning approaches. The results of our study demonstrate that techniques effective in parsing English reports can be scaled to other languages.
Breast cancer is the most common malignancy in women. Interleukin-2 (IL-2) plays a key role in the proliferation of T cells and natural killer cells. It has been reported that polymorphisms in the IL-2 gene are associated with various cancers. The aim of this study was to examine the effect of polymorphisms in the IL-2 gene on the development of breast cancer in the Chinese population. IL-2-330T/G and +114T/G polymorphisms were assessed in 638 breast cancer cases and 682 age-matched healthy controls. Data were analyzed using the chi-square test. Results showed that individuals with -330TG genotype and -330GG genotype had significantly increased susceptibility to breast cancer (Odds ratio [OR]=1.42, 95% confidence interval [CI]: 1.10-1.79, p=0.0021 and OR=2.26, 95%CI: 1.53-3.30, p<0.0001). The +114T/G polymorphism did not show any correlation with breast cancer. In addition, when analyzing the survival time of breast cancer patients with IL-2-330T/G polymorphism, cases with a -330G allele had significantly shorter survival time compared with wild-type patients (p=0.002). These results suggested that polymorphism in the IL-2 gene was associated with increased susceptibility to breast cancer and could be used as a prognostic marker for this malignancy.
Abstract. Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC).Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA -patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive
A technique based on strip dispersion hybrid liquid membrane was developed for the separation and extraction of four main alkaloids from fruits of Macleaya cordata (Willd) R. Br. A microporous polypropylene membrane impregnated with an organic membrane solution comprised the heart of the strip dispersion hybrid liquid membrane system. The membrane solution was made by dissolving a cationic carrier, di-(2-ethylhexyl) phosphoric acid in an inexpensive, less toxic membrane solvent, kerosene. The transport of alkaloids from an aqueous feed solution through the membrane to a strip dispersion phase was driven by the concentration gradient of H(+) and facilitated by di-(2-ethylhexyl) phosphoric acid. The effects of the extraction time and reuse times of the membrane, the strip solution composition, the carrier concentration, the volume ratio of the aqueous strip solution to the organic membrane solution, and the flow rates of the feed solution and the strip dispersion phase on the transport of alkaloids were investigated. Under the optimal conditions, the permeability coefficients obtained for the four main alkaloids allocryptopine, protopine, sanguinarine, and chelerythrine were 1.66, 1.99, 2.98, and 3.06 x 10(-4) cm/s, and the transport efficiencies were as high as 68, 77, 83, and 85%, respectively.
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