Deleterious mutation analysis of BRCA1 based on clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing
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 Fishers 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.
BRCA1 whole-sequence somatocyte pathology
Rensheng Lai Changle Zhu Lin Xie Lifang Feng Weihe Bian
Lab of cytology ＆Molecular/Dept of Pathology,Affiliated hospital of Nanjing university of TCM,China,210029
国际会议
The 5th International Forum on Post-genome Technologies(5IFPT)(第五届国际后基因组生命科学技术学术论坛)
苏州
英文
2007-09-10（万方平台首次上网日期，不代表论文的发表时间）