Deleterious mutation analysis of BRCA1 based on　clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing

摘要

We identified 5 groups of 60 cases BRCA1 gene sequence testing from out-patients,which were mainly employed the whole sequence of somatic cancer cells in familial breast cancer(FBC).The mutant frequence of groups and penetrance with combined clinicopathology systematic 15 item were analyzed by Fisher’s test and correlation.The results show 17(73%) mutation of 23 cases cancer somaticsequence and 18(39%) mutation of 46 cases germline sequence.Groups mutant data were shared in 14/15 cases (93%) in FBC,5/8 cases (62%) in sporadic breast cancer(SBC),4/7 cases (57%) in healthcare control group(HCG),1/18 cases (5%) in low risk group(LRG) and 3/12 cases (25%) in HCG..The deleterious variants associated with clinicopathology were considered as exon 11 5 loci LD(P<0.01 OR5 95%CI 1.3-18) and exon 13、16、and 24 BCDE allele mutation(P<0.01 OR7.5 95%CI 1.06-52).An evidence cancergenesis of an allele solo mutation was found in couple of sisters somatic/germline cell.