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首页> 外文会议>International Forum on Progress on Post-Genome Technologies >Deleterious mutation analysis of BRCA1 based on　clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing
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Deleterious mutation analysis of BRCA1 based on　clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing

机译：基于临床病理学证据在中国家族和散发性乳腺癌中的临床病理证据的存在性突变分析

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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.
机译：我们鉴定了来自OUT-患者的5例60例BRCA1基因序列检测，主要用于家族乳腺癌（FBC）的整体癌细胞序列。分析了组合临床病理学的突变频率和渗透性15项通过Fisher的测试和相关性。结果显示17例（73％）突变23例癌症躯体序列和18例（39％）46例突变46例。突变数据在FBC中的14/15例（93％）分享， 5/8例（62％）在散发性乳腺癌（SBC），4/7例（HCG）中的4/7例（57％），低风险组（LRG）和3/18例（5％）和3例/ 12例（25％）在HCG1中。与临床病理学相关的有害变体被认为是EXON 11 5 LOCI LD（P <0.01或5 95％CI 1.3-18）和外显子13,16和24个BCDE等位基因突变（P < 0.01 or7.5 95％CI 1.06-52）。在姐妹体躯体/种系细胞上发现了等位基因Solo突变的证据凝血。

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