50 Tumor Gene Analysis Report      

50个肿瘤相关基因的突变筛查结果 

   Date:  09/25/2016

 

Dase ID: 08112016-AB
DNA Source: DNA of Human Liver Cancer
Method: Ion AmpliSeq Cancer Hotspot Panel V2 by PGM
History: Liver Cancer (9T) and Control (9N)

 

Sample -9 Normal Control of Liver Cancer
Chrom Position Ref Variant Allele Call Frequency Type Allele Source Gene ID
chr4 55946354 G T Heterozygous 51.6 SNP Novel KDR
chr4 55980239 C T Heterozygous 42.9 SNP Novel KDR
chr7 55249063 G A Heterozygous 53.5 SNP Novel EGFR
chr13 28610183 A G Heterozygous 49.5 SNP Novel FLT3
chr19 1220321 T C Heterozygous 44.6 SNP Novel STK11
chr4 1807894 G A Homozygous 100 SNP Novel FGFR3
chr4 55141055 A G Homozygous 100 SNP Novel PDGFRA
chr5 112175770 G A Homozygous 100 SNP Novel APC
chr5 149433596 TG GA Homozygous 100 MNP Novel CSF1R
chr17 7579472 G C Homozygous 89.9 SNP Novel TP53

 

Sample -9 Liver Cancer
Chrom Position Ref Variant Allele Call Frequency Type Allele Source Gene ID
chr4 55946354 G T Heterozygous 18.5 SNP Novel KDR
chr7 55249063 G A Heterozygous 66 SNP Novel EGFR
chr13 28610183 A G Heterozygous 85.4 SNP Novel FLT3
chr17 7577547 C A Heterozygous 67.9 SNP Hotspot TP53
chr19 1220321 T C Heterozygous 24.4 SNP Novel STK11
chr4 1807894 G A Homozygous 100 SNP Novel FGFR3
chr4 55141055 A G Homozygous 100 SNP Novel PDGFRA
chr5 112175770 G A Homozygous 100 SNP Novel APC
chr5 149433596 TG GA Homozygous 100 MNP Novel CSF1R
chr17 7579472 G C Homozygous 100 SNP Novel TP53

 

Summary:  1. Among 2871 cancer-related variants screened, 10 mutations were identified in the tumor sample.
2. There are 5 heterozygous mutated alleles and 5 homozygous mutations.
3. The Hotsport mutation found in tumor sample, suggests high disease risk, which means substantially higher than the general population. *
Notes: * From the genetic perspective, high disease risk indicates the presence of mutated alleles related to susceptible cancer genes. These mutated alleles may also be present in the genome of your parents, children, brothers and sisters. It is recommended to check their genetic background as well, which is beneficial for early diagnostic and disease prevention.
* *Please check our "50 Cancer Genes" webpage for links to detailed description of these 50 cancer genes at NCBI.

 

中文提示:
* 每个肿瘤相关基因的介绍, 参考 “http://www.batj.net/images/gene-50.pdf”并请参阅 “2017年最新版癌症靶向药”
** Hotspot 是经过研究,该基因位点的突变是与肿瘤密切相关。
*** 从遗传角度分析, 高风险疾病表示患病风险高于普通人群, 说明您体内存在与这些疾病发生相关的高风险的易感基因. 这些易感基因也可能存在于您的父母, 子女, 兄弟姐妹的遗传物质中, 建议进行相关基因检测, 以便及早进行针对性预防.