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Objective Discussion the relationship of PALB2 and AR expression in triple negative breast cancer and its clinical pathological features. Methods The SP immunohistochemical staining was adopted to detect the expression of PALB2 and AR in 178 cases of TNBC, PALB2 divided into two groups according to the expression of different, and to analyze the clinical pathological features and prognostic impact of different AR expression status. Results 178 cases of TNBC, that PALB2 missing expression 47 cases (26.4%), AR expression of 60 cases (33.7%), between of them were negatively correlated (-1≤r<1, P<0.05), in PALB2 negative group, AR expression associated with family history, lymph node metastasis, clinical stage and recurrence and metastasis (P<0.05), and 5-year disease-free survival lower than AR negative expression, Log rank = 4.453, P = 0.035. Conclusion PALB2 negative expression while AR positive expression in TNBC have synergistic effect with disease progression, PALB 2 and AR combined detection may provide a new basis for the prognosis of TNBC interpretation, and recommending take further studies to confirm.
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Background and purpose:Triple-negative breast cancer (TNBC) is currently the focus of breast cancer research. Researches demonstrated that the molecular biological characteristics of different ethnic groups are not the same. This study mainly probed into the expression of endothelial growth factor receptor (EGFR) and vascular endothelial growth factor (VEGF) in Han and Uygur TNBC patients, and the relationship between the expression and prognosis of patients.Methods:From Jan. 2007 to Jan. 2009, 167 patients were admitted. Among those, 121 were Han and 46 were Uygur patients. The expressions of EGFR, and VEGF were detected by PV-9000 immunohistochemical staining, and compared with lymph node metastasis and clinical staging. The results were analyzed by SPSS 18.0 statistical software.Results:Five-year disease-free survival (DFS) of two groups had no indifferent (P>0.05). EGFR and VEGF positive rate of Han patients was lower than that of Uygur patients (P0.05). Uygur TNBC patients might have a different prognostic factor as compared with Han patients. Further studies need to be carried out.
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Objective To investigate the clinical significance of BRCA1/ 2 mutation in breast cancer patients with different malignant tumor family history. Methods We studied 98 cases of diagnosed breast cancer patients with malignant tumor family history. BRCA1/2 screening was performed by PCR-DHPLC sequencing method. All mutations were confirmed by using direct DNA sequencing. Results The prevalence of BRCA1/2 germline mutation was 20.41%.The BRCA1/2 mutation was 55.6% in patients with family breast and ovarian cancer, and was 20.0% and 17.9% in patients with family breast and in patients with ovarian cancer, respectively. In correspondence to 2 and 3 and 4 people withof the breast or ovarian cancer in family , the BRCA1/2 mutation was 16.25%、33.3%、66.67% ,respectively. Conclusion The BRCA1/2 mutation rate increased in the patients with breast and ovarian cancer family history, and the detection of BRCA1/2 mutation increased with the number of patients with cancer in a family.
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Background and purpose: In recent years, more and more clinical researches on the neuroendocrine carcinoma of the breast were carried out at home and abroad. Although there are quite a lot of the retrieved documents of NEBC at home and abroad, but large-scale reports are rare, besides, the epidemiology, diagnosis, treatment and prognosis were different;more research are needed to analyze NEBC. This paper mainly discussed the NEBC clinical diagnosis, treatment and prognosis. Methods: A retrospective analysis was carried out, 25 cases of Tumor Hospital Afifliated to Xinjiang Medical University from Jan. 2004 to Jun. 2013 were pathologically diagnosed as NEBC by clinical data and the follow-up. Results:The average age of 25 NEBC patients was 58.2 years old, without clinical and imaging characteristic features, immunohistochemistry staining showed that, the estrogen receptor (ER) and progesterone receptor (PR) positive rates were 76%and 64%. No one showed HER-2 strong positive. The follow-up was 9-115 months. Besides, 1-, 2-and 5-year overall survival (OS) rates were 100%, 95%and 88%, the disease-free survival (DFS) rates were 96%, 90%and 78%. Conclusion:The age of the patients with NEBC in this study was lower than the data abroad. Age, tumor size, pathological staging may be related to the prognosis of NEBC, and postoperative comprehensive treatment options need further study.
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Background and purpose:Previous studies showed activated aryl hydrocarbon receptor (AhR) might be involved in the development of breast cancer induced by polycyclic aromatic hydrocarbons (PHAs) and AhR which was regarded as transcription factors activated by ligand could induced many enzymes expression. Therefore, this study aimed to explore the protein level of AhR and aryl hydrocarbon metabolic enzymes in vivo with a relationship of the breast cancer and pathology indicators. Methods:A case-control study was 1∶1 matched and 65 pairs blood samples were collected, the ELISA was used in testing blood protein levels of the aromatic hydrocarbon receptor and aryl hydrocarbon metabolic enzymes. Meanwhile pathological data was collected. The Rank sum test statistical analysis was used in analyzing measurement data, Spearman test was used in correlation analysis. Results:Statistical analysis revealed that there was no statistical difference in aldehyde dehydrogenase(ALDH), cytochrome P450(CYP450) between the case group and the control group (Z=0.196,P=0.845;Z=0.269,P=0.788);and the AhR, NQO1, GST control group concentrations were lower than that in the case group. There were statistical differences of AhR, quinone oxido-ereductase 1(NQO1), glutatnione-S-transferases(GST) between the control group and the case group(Z=1.956, P=0.041;Z=2.627, P=0.009;Z=3.272, P=0.001). Correlation analysis showed that AhR has a higher correlation in case group with GST, NQO1 (r=0.665, P<0.01;r=0.704, P<0.01). Grouping with the pathology indicators (ER, PR, HER-2)-,+,++,+++, found that the level of grouping by ER, AhR protein levels and GST protein levels have a discrepancies(P<0.05). Conclusion:These results might suggest that the protein levels of AhR and aryl hydrocarbon metabolic enzymes have a signiifcant impact on breast cancer. Detection of enzyme protein levels may be helpful for early detection of breast cancer, prompt treatment options and prognosis are meaningful.
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PURPOSE: The aim of this study is to further understand the status of BRCA1 and BRCA2 mutation among Chinese high-risk breast cancer patients in multiple-ethnic regions of China. METHODS: A total of 79 blood samples of high-risk breast cancer patients from Xinjiang Uyghur autonomous region were analyzed by PCR-DHPLC sequencing analysis. RESULTS: Analysis with full length of the two genes identified a total of 6 deleterious mutations (2073delA, 2394C-T [Q759X] and IVS16+1G>A in BRCA1; 1627A-T [K467X], 6873delCTCC and 9481delA in BRCA2) in this cohort. The prevalence of BRCA1/2 germline mutation was about 7.6% (6/79) in the Xinjiang multiple ethnic region of China. Among them, 3 novel deleterious mutations, 2073delA in BRCA1 (Han ethnic Chinese) and BRCA2 variants 6873delCTCC and 9481delA (both are Kazakh ethnic Chinese), were identified and they had never been reported in breast cancer information core (BIC) database before. 2394C-T (Q759X) and IVS16+1G>A, in BRCA1 and BRCA2 variants 1627A-T were previously reported in other populations but not Chinese. Among 6 of the BRCA-related tumors, three BRCA1- and one BRCA2-associated tumors were in triple negative (estrogen receptor, progesterone receptor, and HER2 negative expressed) status and exhibited a high tumor grade. So far none of these 6 deleterious mutations were reported in ethnic Han Chinese. CONCLUSION: BRCA germline mutation in Chinese multiple ethnicity region may exhibit different genotypes compared to ethnic Han Chinese in other regions. These differences may arise from interaction of genetic background and environmental factors.
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Female , Humans , Asian People , Breast , Breast Neoplasms , China , Cohort Studies , Ethnicity , Genetic Variation , Genotype , Germ-Line Mutation , Prevalence , Receptors, ProgesteroneABSTRACT
Objective Knowing the BRCA gene mutational condition of high risk triple negative breast cancer (TNBC) in Xinjiang Uygur Autonomous and acquiring the differences of clinical and pathologic characteristics between person with BRCA gene mutation and person without it by means of BRCA gene mutation testing for 30 cases of TNBC in Xinjiang Uygur Autonomous.Methods The objects of this study were 30 cases of high risk TNBC from Xinjiang.All the coded sequences of BRCA1/2 gene were amplified by means of extracting genomic DNA from peripheral venous blood.BRCA1/2 gene mutation analysis were prescreened through DHPLC.Then,the result was verified by DNA sequencing.The clinical and pathologic characteristics between person with BRCA gene mutation and person without it of 30 high risk TNBC cases were contrastively analysed.Results In all the 30 cases of BRCA gene mutation testing for TNBC in Xinjiang Uygur Autonomous,there were 5 cases of pathogenic mutations of BRCA gene (5/30,16.7 ％); 4 cases of BRCA 1 mutation (4/30,13.3 ％); 1 case of BRCA 2 mutation (1/30,3.3 ％); and there was no mutation to be found in 25 cases of BRCA gene of TNBC (25/30,83.3 ％).As compared with person without gene mutation,who with it had the characteristics of earlier of TNM,the difference was statistically significant (P =0.040).Conclusion Since the rate of BRCA1 gene mutation of high risk TNBC is higher.It is suggested that the BRCA gene of every patients with high risk TNBC should be tested.Comparing with person with BRCA gene mutation and person without it,there might have differences on clinical pathological characteristics features.Therefor,individualized treatment should be taken into consideration.