| Background DNA repair genes play an important role in the progression of breast cancer.Patients with DNA repair gene defects need clinical phenotype studies,which are essential for risk assessment,prevention strategies,cancer surveillance and clinical treatment of high-risk breast cancer patients.Materials and Methods A total of 2353 unselected Chinese women with breast cancer were recruited for this study,who were treated in the Breast Surgery of the Cancer Hospital of the Chinese Academy of Medical Sciences from January 1,2017 to December 31,2018.After signing the informed consent,the patient’s peripheral blood samples were taken and the exons of the five genes(BRCA1/2,PALB2,RECQL and CHEK2)were sequenced.Annotating and analysing bioinformatics of mutations,and assessing the clinical phenotype of breast cancer patients.Results A total of 2353 unselected breast cancer patients were enrolled in this study.Among them,106 patients were excluded due to insufficient clinical information,and 2247 patients met the research conditions.The five genes of BRCA1/2,PALB2,RECQL and CHEK2 were sequenced.192 patients with loss of function mutations were found,and the rate of loss of functional mutations was 8.54%(192/2247).36.46%(70/192)patients were BRCA1 loss of function mutation,43.23%(83/192)patients were BRCA2 loss of function mutation,and the PALB2 loss function mutation included 26 patients(13.54%).There were 8 patients(4.17%)with CHEK2 loss of functional mutation,and 1(0.52%)patient had RECQL loss of function mutation.In addition,3 patients(1.56%)had BRCA1+BRCA2 complex loss of function mutation,and 1 patient(0.52%)was BRCA2+PALB2 complex loss of function mutation.Comparing 192 patients with pathogenic mutations with those without pathogenic mutations,we found that the mutation carriers group was with an obviously younger age(P=0.004)than patients without loss of functional mutations.And the mutation carriers had higher proportion of positive family history(P=0.000)and individual tumor history(P=0.001)of cancers.No significant difference was found between two groups in ki67 status(P=0.154),However,the tumors from mutation carriers had significantly higher grades(P=0.000),lower ER/PR expression(P=0.000),and higher proportion of HER-2 negative status(P=0.000).Lymph node metastasis was more common(P=0.006).Conclusions Breast cancer patients with loss of function mutations had a younger age of diagnosis,and had a family history or a personal history of malignant tumors such as breast cancer,ovarian cancer,prostate cancer,and pancreatic cancer.Patients with higher tumor grades,ER/PR negative expression and HER2 no-amplification status were more common.At the same time,patients with lymph node metastasis were more often,suggesting that the patients with loss of function mutations’ prognosis may be more poorer.Background Magnetic resonance imaging(MRI)is a widely used diagnostic tool for breast imaging in daily practice due to its high sensitivity for detecting primary,recurrent,and residual breast cancer.Some breast lesions are not visible on mammography or ultrasonography,and MRI become the only way to monitor these lesions.The purpose of this study was to evaluate the clinical application of MRI-guided biopsy and MRI-guided wire localization of breast minimal lesions in Chinese population.Materials and Methods In our study,we evaluated 95 patients(the most patients of known in China)from August 2013 to December 2017.Three patients had unsuccessful localization or biopsy attempts because of a lack of visualization of the lesion,and five patients were excluded because of insufficient information.All the patients were scanned with a 1.5-Tesla MRI system(GE Medical Systems,America)in the prone position using a bilateral 8-channel phased-array breast coil and underwent MRI-guided wire localization or MRI-guided biopsy.Results MRI-guided wire localization and MRI-guided biopsy were successfully performed in 87 patients with 88 lesions(100%,88/88).After biopsy or surgery,36 of 88 lesions(40.91%)were malignant,and 52 of 88 lesions(59.09%)were benign.Thirty-nine of 88 lesions(44.32%)were masses,and 49 of 88(55.68%)showed non-mass enhancement.Statistical analysis showed there was no significant correlation between the malignancy rate and the type of lesion on MRI(P=0.27).In this study,the rate of malignancy for Breast Imaging-Reporting and Data System(BI-RADS)5 lesions was 100%(2 of 2)compared with 44.44%for BI-RADS 4C lesions(4 of 9),42.42%for BI-RADS 4B lesions(14 of 33),and 36.36%for BI-RADS 4A lesions(16 of 44).Conclusions MRI-guided wire localization and MRI-guided biopsy were successfully performed for all lesions,and 40.91%of lesions were malignant.MRI-guided wire localization with subsequent surgical biopsy and MRI-guided biopsy are safe and effective tools for breast minimal lesions.Objective On the basis of medical data on patients with Paget’s disease of the breast in our hospital,we discussed and summarized the diagnosis,treatment,pathological characteristics and the factors associated with prognosis of the disease.Method 137 patients in our hospital with Paget’s disease of the breast were retrospectively analyzed and followed.The prognosis and influencing factors were analyzed by Kaplan-meier method and Log rank test.Result In the 137 patients with Paget’s disease,134 were females and 3 were males,of which the average age of onset of the disease was 51.77 years(range,27～78 years).Only 7 cases were Paget’s disease without any other underlying malignancy,who were alive during the follow-up period.And the remaining 130 patients with Paget’s disease were associated with underlying ductal carcinoma in suit(DCIS)or(and)with an invasive carcinoma.The positive expression rates of ER,PR and HER2 were 31.50%(40/127)、40.94%(52/127)and 78.69%(48/61)respectively.All patients had been followed after surgery for 2～103 months,the two-year and five-year overall survival were 99.0%、96.0%,and disease-free survival of two-year and five-year were 97.6%、92.8%respectively.A longer course of disease,axillary lymph node metastasis were related to distant metastasis and death of the breast Paget’s disease according to Kaplan-Meier analysis.Conclusion Paget’s disease of the breast is a slowly progressive with a benign prognosis.A longer course of disease,axillary lymph node metastasis and distant metastasis were associated with poor prognosis. |
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