The Analysis Of Brca1 Exon 11,24 Mutations In The Patients With Early Onset Breast Cancer And Affected Relatives Live In Shandong, China

Objective: To detect the mutations and single nucleotide polymophisms(SNPs) in the BRCA1 gende exon 11 and exon 24 in the patients with early onset breast cancer and affected relatives live in Shandong,China, explore the regulations of mutations and SNPs, and find the " hot points " of these mutations.Method: BRCA1 gene mutations and SNPs at exon 11 and exon 24 were determined by polymerase chain reaction- Denaturing High Performance Liquid Chromatography(PCR-DHPLC) method in 25 female patients younger than 35 years old and 17 female breast cancer patients with affected relatives(4 of them are early onset breast cancer).Results: No disease relatived mutations were found in the 25 early onset breast cancer patients, the only disease relatived mutation (1100delAT exon11 stop328 frameshift) which has never been detected was found in a familial breast cancer patient ,.And at the same time 3 SNPs were found: 2201C>T,2430T>C,2731C>T ,they are as same as reported before ,but their allele frequency were different to that were reported. But there was no statistical significance between the 3 SNPs and age of onset(p=0.362) or family history (p=0.236) .Conclusion: The incidence rate of BRCA1 gene mutation at exon 11 and exon 24 in the patients with early onset breast cancer and affected relatives live in Shandong is lower than that of Western country .No "founder mutation" was found in the Chinese population.