BRCA1 and BRCA2 pathogenic mutations in 74 patients with early-onset breast cancer / 军事医学

Objective To investigate the pathogenic mutations of BRCA1 and BRCA2 in patients with early-onset breast cancer(≤35 years) and explore the relationships between BRCA1/2 mutations and clinical features.Methods Seventy-four patients with early-onset breast cancer were enrolled,who were treated in Hospital 307 between September 2014 and June 2016.High-throughput sequencing was used to test the 49 exon sequences and adjacent sequences of BRCA1 and BRCA2.χ2 test was used to analyze the distribution of BRCA1/2 pathogenic mutations in each group that was set up according to clinical features.Results Fifteen mutations(20.27%) were identified,including 5(6.76%) in BRCA1 and 10(13.51%) in BRCA2.Eleven new pathogenic mutations were discovered,and BRCA1:c.5470_5477delTGCCCAAT was found in one patient.The frequency of BRCA1/2 mutations in the group with a family history of breast cancer or ovarian cancer was higher than in the group without a family history (40.91% vs 11.54%) (χ2=6.534,P=0.011).Conclusion BRCA1/2 pathogenic mutation is significant for early-onset breast cancer,especially for those with a family history of breast or ovarian cancer.The new mutations may be specific to Chinese people.BRCA1:c.5470_5477delTGCCCAAT may be the ancestor mutation among the Chinese.

Correlation between expression of Ki-67 and Her-2 and clinical features in breast invasive ductal carcinoma / 军事医学

Objective To analyze the correlation between the expression of Ki-67 and Her-2 and clinical features in breast invasive ductal carcinoma .Methods Clinical and pathological data of 202 female breast invasive ductal carcinoma patients were collected between January 2012 and September 2014 .The correlation between the expression of Ki-67 and Her-2 and clinical features was analyzed .Results The positive rate of Ki-67 was 73.3%(148/202) and that of Her-2 was 19.3(39/202).The expression of Ki-67 was related to histological grading , ER and PR status(P0.05).The expression of Her-2 was related to ER and PR status (P0.05).Moreover, the low expression Ki-67 and negative expression of Her-2 were positvely corelated with the positive expression of hormone receptor [estrogen receptor(ER),pro-gestin receptor(PR)](P<0.05).Conclusion High expression of Ki-67 suggested that the differential grade of tumor was lower , malignant grade was higher , infiltration was stronger and metastasis was easier .High expression of Ki-67 and positive Her-2 suggests lower sensitivity to endocrine therapy and treatment .Detection of Ki-67 and Her-2 expression in breast inva-sive ductal carcinoma is of guiding significance for understanding the degree of malignancy and for evaluating prognosis .