检测编号：GS1000605

服务项目

境象生物为您提供BRCA2基因的突变检测服务。

样本要求

唾液（2ml以上）、全血（2ml以上）

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称	基因全名	基因位置	外显子个数	CDS长度
BRCA2	breast cancer 2, early onset	13q12.3	27	约11386 bp
基因摘要	Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008].

相关文献

1. Alakus H et al, Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin., Genome medicine;6(5):43, 2014, PubMed Link
2. Aydin IT et al, FBXW7 Mutations in Melanoma and a New Therapeutic Paradigm., Journal of the National Cancer Institute;106(6):dju107, 2014, PubMed Link
3. Brastianos PK et al, Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas., Nature genetics;46(2):161-5, 2014, PubMed Link
4. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
5. Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link