Analysis Of BRCA1 Gene Mutation In Ningxia Hui And Han People

Objective To analyze the mutations of BRCA1 in breast cancer patients in Ningxia. BRCA1 is a hereditary breast and ovarian cancer susceptibility gene (hereditary breast and ovarian cancer susceptibility gene), this experimental study breast cancer patient BRCA1 gene mutation situation and the mutation site of hui and han people in Ningxia.Discuss the relationship between BRCA1 gene mutation and breast cancer, simultaneously analyze the breast cancer BRCA1 gene mutation in hui and han people.Methods By using polymerase chain reaction and direct DNA sequencing , BRCA1 mutations were detected in 130 women breast cancer cases and 80 cases of healthy people (Including 30 cases of Hui people and 50 cases of Han people).Statistical treatment of experimental data using statistical packages SPSS13.0 using chi-square test and Fisher's exact test. Immunohistochemistry in the hierarchy of information using Mann-Whitney test, the factors associated with the BRCA1 breast cancer gene mutations using Logistic regression statistics. In order to test the level ofα= 0.05.Results (1)15 loci of BRCA1 gene mutation were detected in 130 case of women breast cancer patients, four cases of mutations in breast cancer information center website BIC (Breast Cancer Information Core)have reported, two cases of exon 11 2201C> T mutation, 1 case of 2548del A in exon 11, 1 case of exon 11 2754 G> A, 11 case BRCA1 gene mutation have not been reported at home and abroad, were 1 case of missense mutation (139G> T)in the exon2, one case missense mutation(5317A> T) in exon 20, 5 cases of missense mutation(respectively, 2403 A> G, 2405A> T, 943 G> A, 981A> G, 984 A> T) in exon 11, 4 cases exon 11 shift mutation (respectively, 2722delC, 3126insT, 944delC, 944delC) (2) The frequency of BRCA1 mutation in 130 women breast cancer cases was 11.54 %(15/ 130) . Among them there are 12 gene mutations in the 90 cases of breast cancer of Han people,the rate is 13.33%(12/90), 40 cases of breast cancer, there are three cases of gene mutation in hui people, the gene mutation rate was 7.5%(3/40), Han breast cancer gene mutation rate was 13.33%(12/90) ,higher than the Hui breast cancer gene mutation rate of 7.5% (3/40), between the BRCA1 breast cancer gene mutation rate there is no significant difference (χ2= 0.923, P >0.05) ;(3) The frequency of BRCA1 mutation in women early onset breast cancer was 20.4% (10/49) , which was higher than that in late onset group (5/81 ,6.2%)(χ2 =6.061 , P < 0. 05) (4)The frequency of estrogen receptor,progesterone receptor and human epidermal growth factor receptor negative(called triple-negative breast cancer) of BRCA1 mutation was 66.7%(10/15),which was higher than non-BRCA1 mutation related breast cancer was 25.2%(29/115)(χ2 =10.852 , P < 0.05);(5)BRCA1 gene mutation-related breast cancer lymph node metastasis rate was 93.33%(14/15), higher than the non BRCA1-related breast cancer gene mutation 61.74%(71/115)(χ2 =5.852,P<0.05).Conclusion (1) BRCA1 gene mutation related with breast cancer;(2) BRCA1 breast cancer gene mutations showed no significant difference between Ningxia Hui and Han people;(3) This study we found mutations BRCA1 gene in 15 cases, 4 cases are consistent with the existing literature while 10 mutations in 11 cases of breast cancer cases were first found, also not found "ancestor mutation" in the Chinese population; (4) Compared to the non-mutation group BRCA1 gene mutation in breast cancer has the high proportion of histological grade III and ER,PR,CerbB-2 negative increased trend, showing that BRCA1 gene mutation is related with immunohistochemical characteristics ;(5) early-onset breast cancer is related with BRCA1 gene mutation; (6) BRCA1 gene mutation more likely to lymph node metastasis, and prompted poor prognosis.