Study on the preparation conditions and degradation performance of an efficient immobilized microbial agent for marine oil pollution.

In the process of handling marine oil spills accidents, the biological method has attracted wide attention due to its low cost and no secondary pollution. However, in the process of practical application, there are problems such as low microbial density and great influence of environmental factors when the oil is treated by spraying microorganisms on the sea surface. This study used immobilized microorganism technology to solve the above-mentioned problems. In this study, the bacteria immobilized on cinnamon shell (CS) with good degradation performance were obtained by optimizing preparation conditions. Under the optimal conditions of sodium alginate (SA) concentration of 4.57%, CS concentration of 1.28%, and the CaCl2 concentration of 2.45%, the degradation rate of diesel in 5 days reached 74.04%. The reusability of immobilized microbial agents was further studied. The study designed three cycles of repeated degradation experiments. The results showed that the degradation rate of diesel can still reach 60.12% after three times of reuse, which indicated the reusability of the immobilized microbial agents was excellent. The decrease in degradation rate of diesel was mainly related to the fragmentation of immobilized microbial agents and the decrease in microbial biomass.

Notch1/TAZ axis promotes aerobic glycolysis and immune escape in lung cancer.

Oncogenic signaling pathway reprograms cancer cell metabolism to promote aerobic glycolysis in favor of tumor growth. The ability of cancer cells to evade immunosurveillance and the role of metabolic regulators in T-cell functions suggest that oncogene-induced metabolic reprogramming may be linked to immune escape. Notch1 signaling, dysregulated in lung cancer, is correlated with increased glycolysis. Herein, we demonstrate in lung cancer that Notch1 promotes glycolytic gene expression through functional interaction with histone acetyltransferases p300 and pCAF. Notch1 signaling forms a positive feedback loop with TAZ. Notch1 transcriptional activity was increased in the presence of TAZ and the activation was TEAD1 independent. Notably, aerobic glycolysis was critical for Notch1/TAZ axis modulation of lung cancer growth in vitro and in vivo. Increased level of extracellular lactate via Notch1/TAZ axis inhibited cytotoxic T-cell activity, leading to the invasive characteristic of lung cancer cells. Interaction between Notch1 and TAZ promoted aerobic glycolysis and immune escape in lung cancer. Our findings provide potential therapeutic targets against Notch1 and TAZ and would be important for clinical translation in lung cancer.

Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma.

INTRODUCTION: Pulmonary nuclear protein of the testis (NUT) midline carcinoma (NMC) is a aggressive cancer with t (15, 19) translocation. Here we present the clinicopathological characteristics and molecular genetics alterations of primary pulmonary NMC. METHODS: Fluorescence in situ hybridization (FISH) assay was performed to evaluate NUT translocation. Next generation sequencing (NGS) was performed to investigate genomic landscape. A panel of 289 lung cancer tissues with undifferentiation was retrospectively screened for NUT expression by immunohistochemical (IHC) assay. RESULTS: Overall, 2136 lung cancer samples were reviewed. We consecutively identified 12 cases of primary pulmonary NMC. Computed tomography revealed centrally located bulky lung mass with ipsilateral mediastinal lymph node and pleural involvements. Tumor cells presented diffuse poor differentiation and focal squamous differentiation with positive NUT expression. NUT rearrangement was confirmed by FISH assay. Ten NMC samples were investigated by NGS. The most common alterations identified were P53, PIK3CA, AUTS2, ITIH2, and CDKL5 genes. Pulmonary NMC exhibited increased activity of PI3K/AKT pathway. In the screening study, BRD4-NUT rearrangement was identified in two cases. CONCLUSION: NUT rearrangement remains the gold standard in the diagnosis of pulmonary NMC. PI3K inhibition is a potential targeted therapy for pulmonary NMC.

Analyses of community structure and role of immobilized bacteria system in the bioremediation process of diesel pollution seawater.

Immobilized bacteria system plays an important role during degradation process in oil contaminated seawater. Although the immobilized bacteria system can be recycled to avoid pollution after remediation, it remains an open question on whether or not the secondary pollution occurs during the degradation process. Additionally, the research on the role of immobilized bacteria system in the process of oil removal is not clear enough. In this study, both the diesel degradation rate of diesel by immobilized bacteria system and changes in marine microbial community structure were determined to explore the role of immobilized bacteria system. The immobilized bacteria system was added to the diesel polluted seawater (1% diesel) for 30 days. The degradation performance was investigated during the process, and the microbial community structure was analyzed simultaneously. The results illustrated that the degradation rate of diesel by immobilized bacteria system reached 78.39% after 30 days, and Alcanivorax (59.09%), Achromobacter (24.34%) and Thalassospira (9.84%) were the dominant genera in the immobilized bacteria system. The addition of immobilized bacteria system increased the content of nitrogen and phosphorus, and then promoted the growth of oil-degrading bacteria. Thus, functional genes related to oil degradation increased. Additionally, there was little difference in the microbial composition between the treated seawater and the unpolluted seawater. Based on all results, it can be inferred that immobilized bacteria system triggered and stimulated diesel degradation process. This study provides a promising way to improve the removal of oil, and provides theoretical support for the wide application of immobilized microorganism technology.

Evaluation of response of dynamics change in bioaugmentation process in diesel-polluted seawater via high-throughput sequencing: Degradation characteristic, community structure, functional genes.

Identification of microorganisms that contribute to the whole microbial community is important. In this study, dynamic changes in bioaugmentation process in diesel-polluted seawater collected from two different sites were assessed via simulation experiments. Ultraviolet spectrophotometry and analysis using the molecular operating environment software revealed that the degradation rate of diesel due to bioaugmentation was higher than 70 % after 45 days because of the formation of hydrogen bonds among biosurfactants and diesel components. Community structure and functional genes were analysed via high-throughput sequencing. Results showed that community diversity recovered during bioaugmentation. Principal coordinate analysis showed that the difference in microbial community between the two sites was considerably smaller than that when diesel was added and bioaugmentation was conducted. After bioaugmentation, the main families playing key roles in degradation that became dominant were Alcanivoracaceae, Rhodobiaceae, and Rhodospirillaceae. Moreover, the abundance of functional genes remarkably increased at two different sites.

Systematic degradation mechanism and pathways analysis of the immobilized bacteria: Permeability and biodegradation, kinetic and molecular simulation.

In order to effectively improve the degradation rate of diesel, a systematic analysis of the degradation mechanism used by immobilized bacteria is necessary. In the present study, diesel degradation mechanisms were assessed by analyzing permeability, biodegradation, adsorption kinetics, and molecular simulation. We found that bacteria immobilized on cinnamon shells and peanut shells degraded relatively high amounts of diesel (69.94% and 64.41%, respectively). The primary degradation pathways used by immobilized bacteria included surface adsorption, internal uptake, and biodegradation. Surface adsorption was dominant in the early stage of degradation, whereas biodegradation was dominant in later stages. The diesel adsorption rate of the immobilized bacteria was in agreement with the pseudo second-order kinetic model. The immobilized bacteria and diesel interacted through hydrogen bonds.

Cecal Endometriosis With Intestinal Metaplasia Misdiagnosed as Neoplasm of the Cecum by Intraoperative Histological Examination.

Appendiceal or cecal endometriosis with intestinal metaplasia is uncommon and may mimic mucinous tumors of the appendix. A 50-year-old woman was found incidentally to have an ileocecal lesion. In the intraoperative histological examination, a diagnosis of neoplasm of the cecum was made predominantly based on mucin extrusion with scattered lining mucinous epithelium. However, postoperative histological diagnosis of the lesion was cecal endometriosis with intestinal metaplasia as determined by thoroughly microscopic inspection and the presence of typical endometrial glands with surrounding endometrial-type stroma. There was no evidence of recurrence and pseudomyxoma peritonei after 1 year of follow-up. Overinterpretation of cytological atypia or mucin extrusion in endometriosis may lead to inappropriate surgical management. Therefore, in any ileocecal or appendiceal lesions with mucinous epithelia and mucin extrusions, removal of sufficient tissue from different portions of the lesion is essential for surgeons and pathologists to make a precise diagnosis in the intraoperative histological examination.

The Prognostic Significance of Notch1 and Fatty Acid Binding Protein 7 (FABP7) Expression in Resected Tracheobronchial Adenoid Cystic Carcinoma: A Multicenter Retrospective Study.

PURPOSE: Adenoid cystic carcinoma (ACC) of the trachea and bronchus is a rare tumor. Although MYB-NFIB oncogene fusion and Notch1 mutation have been identified in ACC, little is known about the expression and clinical significance of Notch1 and its target gene fatty acid binding protein 7 (FABP7) in tracheobronchial ACC. MATERIALS AND METHODS: Primary tracheobronchial ACC that were resected between 1998 and 2014 were identified through the pathology and oncology database from five thoracic oncology centers in China. A tissue array was constructed from the patients' samples and the expressions of Notch1 and FABP7 were evaluated by immunohistochemistry. The association between the expression of both markers and survival was determined. RESULTS: Overexpression of Notch1 and FABP7, detected in 37.8% and 38.3% of 368 patients with tracheobronchial ACC, respectively, was an independent prognostic indicator for recurrencefree survival (RFS) by multivariable Cox proportional hazard model (p=0.032 and p=0.048, respectively). Overexpression of Notch1, but not of FABP7, predicted overall survival (OS) (p=0.018). When categorized into four groups according to coexpression of Notch1 and FABP7, patients with overexpression of both Notch1 and FABP7 belonged to the group with the shortest RFS and OS (p=0.01 and p=0.048, respectively). CONCLUSION: Expression of Notch1 and FABP7, and coexpression of Notch1 and FABP7, is strongly associated with poor survival in resected tracheobronchial ACC. These data are consistent with the hypothesis that poor differentiation of tracheobronchial ACC correlates with the activation of Notch signaling.

Comparison of detection methods and follow-up study on the tyrosine kinase inhibitors therapy in non-small cell lung cancer patients with ROS1 fusion rearrangement.

BACKGROUND: The screening of ROS proto-oncogene 1, receptor tyrosine kinase(ROS1) fusion rearrangement might be potentially beneficial for an effective therapy against non-small cell lung cancer (NSCLC). However, the three main ROS1 rearrangement detection methods have limitations, and no routine protocol for the detection of ROS1 rearrangement in NSCLC is available. In this study, our aims were to compare immunohistochemistry (IHC), fluorescent in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (qRT-PCR) in their ability to detect ROS1 rearrangement in NSCLC, and discuss the clinical characteristics and histopathology of the patients with ROS1 rearrangement. Moreover, the effects of tyrosine kinase inhibitors (TKIs) therapy on the patients with ROS1 rearrangement and advanced stage disease (III b-IV) were investigated. METHODS: Patients with a previously diagnosed NSCLC were recruited in this study from November 2013 to October 2015. IHC was performed using the D4D6 monoclonal antibody (mAb) in an automatic IHC instrument, while FISH and qRT-PCR were carried out to confirm the IHC results. FISH and qRT-PCR positive cases underwent direct sequencing. After detection, patients with advanced ROS1 rearranged NSCLC had received TKI therapy. RESULTS: Two hundred and thirty-eight patients were included in this study. ROS1 rearrangement was detected in 10 patients. The concordant rate of FISH and qRT-PCR results was 100 %, while in the FISH and IHC results high congruence was present when IHC showed a diffusely (≥60 % tumor cells) 2-3+ cytoplasmic reactivity pattern. Patients harboring ROS1 rearrangement were mostly young (8/10), females (7/10) and non-smokers (7/10) with adenocarcinoma (10/10) and acinar pattern. Most of their tumor were in intermediate grade (6/8). Among these 10 patients, three of them in stage IV with ROS1 rearrangement gained benefits from ROS1 TKI therapy. CONCLUSIONS: IHC, FISH and qRT-PCR can reliably detect ROS1 rearrangement in NSCLC, while IHC can be used as a preliminary screening tool. These results supported the efficacy of ROS1 TKI therapy in treating advanced NSCLC patients with ROS1 rearrangement.

[Manual immunohistochemistry for detecting ALK gene fusion antibody in 519 cases of non-small lung cancer].

OBJECTIVE: To investigate the expression of anaplastic lymphoma kinase (ALK) gene fusion antibody in non-small cell lung cancer (NSCLC) and explore the clinicopathological significance. METHODS: Using manual immunohistochemistry (IHC) with D5F3 rabbit monoclonal antibody, we detected the expression of ALK gene fusion protein in 519 cases of NSCLC. The relations of ALK fusion protein with the clinical characteristics of the patients and the histological classification of the tumors were analyzed. The expressions of ALK fusion protein were compared between surgical specimens and biopsy samples, and the consistency of manual IHC results was evaluated with the results of a fully automated IHC instrument and fluorescence in situ hybridization (FISH). RESULTS: The positivity rate of ALK fusion protein was 11.37% (59/519) among the cases detected by manual IHC. The patients tended to have a young age of onset (P=0.048) and most of the tumors were adenocarcinoma. In the surgical specimens, ALK fusion protein was expressed mostly in invasive mucinous adenocarcinoma (P<0.01), and it was a high risk factor of lymph node metastasis [OR=2.188(95%C.I:1.161-4.122)]. No statistical difference was found in the test results of manual IHC between surgical specimens and biopsy samples. The results by manual IHC suggesting a strong expression were consistent with the results by automated IHC and FISH. CONCLUSION: Manual IHC can be reliable for screening ALK fusion arrangement in patients with NSCLC.

Pulmonary epithelioid inflammatory myofibroblastic sarcoma with multiple bone metastases: case report and review of literature.

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare variant of inflammatory myofibroblastic tumor with distinctive morphological features and malignant clinical behavior. Only a few such cases have been described in the literature. We report here a case of unusual pulmonary EIMS with multiple bone metastases. A 21-year-old Chinese male patient presented with complaints of general fatigue and rapid weight loss, and a huge tumor arising in the left lower lobe of lung was detected by chest computed tomography. The mass of lung was totally resected. Microscopically, the tumor cells were rounded and epithelioid in shape. Myxoid stroma and inflammatory infiltration was also present. The tumor cells were immunopositive to anaplastic lymphoma kinase (ALK) in smooth cytoplasmic pattern. Fluorescence in situ hybridization (FISH) assay revealed the presence of rearrangement of ALK gene. Three months after lung surgery, there were multiple bone metastases and intraspinal mass found by positron emission tomography. The second surgical treatment was performed to remove the intraspinal lesion. The histological and immunohistochemical features of intraspinal mass were similar to those of pulmonary tumor. The diagnosis of pulmonary EIMS with multiple bone metastases was made. To the best of our knowledge, it may be the first case of an EIMS arising in lung. Awareness of EIMS in respiratory tract and its distinctive features is important for pathologists to avoid a diagnostic pitfall caused by histologic similarities to other ALK-positive tumors. ALK inhibitor is a promising treatment for this aggressive tumor regardless of its potential acquired resistance.

Intraspinal dural-based primary osteoblastoma with aneurysmal bone cyst-like change.

Osteoblastoma is a benign bone-forming neoplasm that occurs commonly in the posterior elements of the spine and the sacrum. However, so far there has been no report of intradural osteoblastoma described in the literature. We present a unique case of intraspinal dural-based osteoblastoma with aneurysmal bone cyst-like change without evidence of vertebral involvement. An 11-year-old Chinese girl presented with a 3-month history of gradually progressive back pain and a weakness of both lower limbs. Thoracic MRI revealed a well-demarcated subdural mass at the T5 level with heterogeneous enhancement. Histologically, the tumor was found to be attached to the dura and composed of numerous osteoid spicules and trabecular bone with diffusely scattered osteoclast-type, multinucleated giant cells. Ectactic blood vessels and blood-filled cystic spaces were also observed. A diagnosis of primary intraspinal dural-based osteoblastoma with aneurysmal bone cyst-like change was made. To our best knowledge, this is possibly the first case of primary osteoblastoma arising from meninges. Meningeal osteocartilaginous tumors are rare, with obscure histogenesis. The differential diagnosis of osteoblastoma in unusual locations is difficult and the confirmation of diagnosis should be cautiously made. Awareness of dural-based osteoblastoma and its histological features is important to avoid a diagnostic pitfall caused by histological similarities to other intra-craniospinal lesions with osteoid differentiation or bone formation.

BRCA1 gene exon 11 mutations in Uighur and Han women with early-onset sporadic breast cancer in the northwest region of China.

The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

Malignant perivascular epithelioid cell tumor of mesentery with lymph node involvement: a case report and review of literature.

Perivascular epithelioid cell tumor (PEComa) is a rare but distinct mesenchymal neoplasm composed of histologically and immunohistochemically unique perivascular epithelioid cells. Due to its relative rarity, little is known about the histogenesis and prognostic factors of this tumor. We describe a case of unusual mesenteric PEComa in a 38-year-old female patient with regional lymph node involvement. Histologically, the tumor was composed of sheet of epithelioid cells with abundant clear or eosinophillic cytoplasms. Extensive coagulative necrosis and a few mitotic figures (2/50 high power field) could be found in tumor. The epithelioid tumor cells were diffusely positive for HMB-45, Melan-A, and focally positive for calponin. One of enlarged mesenteric lymph nodes was observed to be involved by tumor. A diagnosis of malignant mesenteric PEComa with lymph node involvement was made. The patient received chemotherapy after total resection of tumor and segmental resection of involved jejunum. There was no sign of recurrence of tumor found in period of 6-month regular follow-up after chemotherapy. To our knowledge, this is the first case of malignant PEComa in mesentery accompanied with regional lymph node involvement. The literature on this rare tumor is reviewed and diagnostic criteria of malignant PEComa are discussed. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1309992178882788.

[Detection and clinical significance of Notch1 methylation in breast cancer and intraductal proliferative breast lesions].

OBJECTIVE: To explore the relevance between the promoter methylation status of Notch1 gene and the invasive ductal carcinoma and ductal hyperplastic lesions of the breast. METHODS: Methylation status of Notch1 gene in human breast invasive ductal carcinoma (IDC, n = 89), ductal carcinoma in situ (DCIS, n = 20), atypical ductal hyperplasia (ADH, n = 11) and usual ductal hyperplasia (UDH, n = 20) were quantitatively evaluated by MALDI-TOF MS. The expression of Notch1 protein was detected by immunohistochemical stain (SP method). RESULTS: Positive expression rates of Notch1 protein in IDC and DCIS were 91.0% (81/89) and 75.0% (15/20), respectively, which were significantly higher than those of ADH (4/11) and UDH (30.0%, 6/20;P < 0.05). Notch1 protein expression was correlated significantly with lymph node metastasis, pathological grades and TNM stages of IDC. The mean methylation levels of Notch1 gene at CpG_3, CpG_4.5 and CpG_8 significantly decreased in IDC group compared with those of DCIS, ADH and UDH groups (P < 0.0083). In breast carcinomas, the mean methylation rates of Notch1 gene at CpG_4.5, CpG_10.11, and CpG_14.15.16 loci in cases with axillary node metastasis were significantly lower than those without axillary node metastasis (P < 0.05); and the methylation rates at CpG_14.15.16 and CpG_18 loci in stage Iwere lower than that in stage II, further lower than that in stage III (P < 0.05); and that in CpG_1.2, CpG_12.13 loci in grade I (highly-differentiated group) were higher than that in grade II (moderate-differentiated group) and grade III (poorly-differentiated group) (P < 0.05); and the methylation rates at CpG_3, CpG_8 and CpG_14.15.16 loci in ER(+) PR(+) HER2(-) group were lower than that in ER(-) PR(-) HER2(+) group (P < 0.05). CONCLUSIONS: There is an overall hypomethylation of Notch1 gene in breast invasive ductal carcinomas with corresponding over-expression of Notch1 protein. This inverse correlation show that the alteration of protein expression result from hypomethylation oncogene Notch1, and this change may have important significance in breast tumorigenesis and the development. Specific hypomethylation at CpG_3, CpG_ 4.5 and CpG_8 loci of Notch1 gene may play a role in the pathogenesis of breast carcinoma, suggesting the progression and/or malignant transformation from benign glandular lesions of the breast.

Neuregulin-1 regulates the expression of Akt, Bcl-2, and Bad signaling after focal cerebral ischemia in rats.

Neuregulin-1 (NRG-1) is a member of the epidermal growth factor family. Our previous study showed that NRG-1 protected neurons from apoptosis following focal cerebral ischemia by the inhibition of caspase-3 and TNF-alpha expression. However, the molecular signaling mechanisms for this action of NRG-1 following cerebral ischemia are not fully understood. Presently, activation of the PI3K/Akt pathway has been implicated as a major contributor to neuronal survival after an ischemic insult. In the present study, we investigated whether NRG-1 modulates the activation of Akt and its downstream targets Bad and Bcl-2 expression after transient focal cerebral ischemia by intraluminal blockade of the middle cerebral artery. Western blot was employed to analyze the change of phosphorylated Akt (p-Akt) expression; reverse transcription and polymerization chain reaction (RT-PCR) were used to measure changes of Bcl-2 mRNA. The level of phosphorylation of Bad (p-Bad) was determined using an enzyme-linked immunosorbent assay (ELISA). Our results showed that recombinant human NRG-1(3.0 ng.kg-1) significantly increased the expression of p-Akt protein, Bcl-2 mRNA, and the level of p-Bad, respectively, whereas administration of LY294002, a specific inhibitor of PI3K, significantly decreased the expression of p-Akt, p-Bad, and Bcl-2 induced by NRG-1 after a 60 min ischemic insult, followed by 24 h of reperfusion. These results indicate that NRG-1 may be involved in regulating the expression of Bcl-2 and p-Bad through the PI3K/Akt pathway after transient focal cerebral ischemia.

[Notch1 mRNA and protein expression in human breast cancer and normal mammary gland tissues].

OBJECTIVE: To explore the Notch1 mRNA and protein expression in human breast cancers and normal mammary tissues, and their relationship with the clinical indicators of breast cancers were analyzed. METHODS: Notch1 gene of human breast invasive ductal carcinoma (IDC) and normal mammary gland tissues were amplified by RT-PCR, and the expression of Notch1 protein was detected by immunohistochemical Streptavidin-Biotin Complex (SP) stain in 60 IDC, 30 ductal carcinoma in situ (DCIS) and 60 normal mammary tissues. RESULTS: Notch1 gene of human IDC and normal mammary tissues both could express in a transcription level; the positive rates of Notch1 protein expression in normal mammary tissues and DCIS were 55% and 70%. Respectively, which did not differ statistically (P > 0.05), while the positive rate in IDC was 90%, significantly higher than that of the normal mammary tissues and DCIS (P < 0.05). The high expression of Notch1 protein in IDC correlate significantly with lymph node metastasis, pathological grades and TNM stages. CONCLUSIONS: Notch1 protein was over expressed in breast IDC. A high Notch1 protein expression is considered associating with the evolution and malignant transformation of the breast tumor. The expression of Notch1 gene maybe impact the effect of on the progression of breast cancers.

[Analysis of the mutation of BRCA1 gene in 70 Uigur women breast cancer patients in Xinjiang].

OBJECTIVE: To analyze the mutations of BRCA1 in breast cancer patients of Uigur women in Xinjiang. METHODS: By using single strand conformation polymorphism (SSCP) and DNA sequencing, BRCA1 mutations were detected in 70 Uigur women breast cancer cases and 32 cases of benign breast diseases and non-tumor tissue next to carcinoma. RESULTS: (1) 12 new loci of BRCA1 gene mutation were detected firstly in 70 Uigur women breast cancer patients. (2)The frequency of BRCA1 mutation in 70 Uigur women breast cancer cases was 12.86% (9/70). The frequency of BRCA1 mutation in Uigur women early onset breast cancer was 31.82% (7/22), which was significantly higher than that in late onset group (2/48, 4.16%) (chi(2) =10.295, P<0.01). (3) There were BRCA1 gene polymorphisms in 9 of 70 Uigur women breast cancer patients. The loci of polymorphisms in 8 of 9 cases were 3232A>G. (4)In the research group two cases of bilateral breast cancer were found with BRCA1 gene mutation. CONCLUSION: The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.