Analysis Of BRCA1 Gene Mutations In Breast And Ovarian Cancer Patients

Objective:To investigate the role of breast cancer susceptibility gene (BRCA1) mutation among Chinese breast and ovarian cancer patients. To detect mutation situation in BRCA1 among Chinese breast and ovarian cancer patients using occidental mutation hotspot in BRCA1. To find the mutation hotspot in BRCA1 gene among Chinese breast and ovarian cancer patients, to make further confirm about the correlations between BRCA1 mutation and breast ovarian cancer. To make genetic counseling better, decrease disease rates.Methods:Polymeraze chain reaction-single strand conformation polymorphism (PCR-SSCP) and multiplex heteroduplex analysis (MHA) were used to detect mutations of BRCA1 (exons 2,11 (11A and 11B) and 20) genes in 105 cancer patients as cancer group and 20 blood samples from healthy people as normal control. Cancer group contain the tissue samples from 71 breast cancer patients (12 cases of familial breast cancers,15 pathology specimens of breast cancer) and tissue samples from 34 sporadic ovarian cancer patients as cancer group. DNA sequencing was used when probable positive samples were found.Results:(1) PCR result showed that all 105 cancer patients and 20 healthy people had the same band, indicated that BRCA1 gene among cancer patients didn't have obvious insert or deletion mutation in the examined area. (2) SSCP result showed that only one ovarian tissue sample had some differences compared to control group in BRCA1 exon 11B. (3) MHA result had confirm that above mentioned sample was a positive mutation, didn't find any mutations among others. (4) DNA sequencing result showed that 3932bp (T→C) in above mentioned sample, the protein coded by the DNA was the same, indicated it is a synonymous mutation, potential nothing to do with the cancer.Conclusion:The mutation rates in BRCA1 gene among Chinese women are quiet low, the mutation hotspot is different form other country. The mutation hotspot in exons 2,11,20 is less related to Chinese breast and ovarian cancer patients. It is important to find the mutation hotspot in BRCA1 gene among Chinese patients.