chr13:32889611:> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,889,611-32,973,347
hg38 chr13:32,315,474-32,399,210 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
pancreatic cancer Mitomycin D Predictive Supports Sensitivity/Response Rare Germline 2 16243825 Detail
cancer Olaparib A Predictive Supports Sensitivity/Response Rare Germline 4 19553641 Detail
prostate cancer B Prognostic Supports Poor Outcome Rare Germline 3 23569316 Detail
ovarian carcinoma Platinum Compound B Predictive Supports Sensitivity/Response Rare Germline 3 24240112 Detail
ovarian carcinoma Platinum Compound B Predictive Supports Sensitivity/Response Somatic 3 24240112 Detail
ovarian cancer B Prognostic Supports Better Outcome Rare Germline 3 26740259 Detail
ovarian cancer Cediranib,Olaparib B Predictive Supports Sensitivity/Response Rare Germline 3 25218906 Detail
triple-receptor negative breast cancer Cisplatin,Carboplatin B Predictive Supports Sensitivity/Response Rare Germline 3 25847936 Detail
ovarian cancer Olaparib B Predictive Supports Sensitivity/Response Rare Germline 3 21862407 Detail
triple-receptor negative breast cancer Olaparib B Predictive Does Not Support Sensitivity/Response Rare Germline 3 21862407 Detail
breast cancer Quarfloxin,Pol I Inhibitor CX5461 D Predictive Supports Sensitivity/Response Unknown 4 28211448 Detail
ovarian cancer Olaparib B Predictive Supports Sensitivity/Response Rare Germline 4 23346317 Detail
ovary epithelial cancer B Prognostic Supports Better Outcome Rare Germline 3 22274685 Detail
breast cancer Talazoparib B Predictive Supports Sensitivity/Response Rare Germline 4 28242752 Detail
ovarian cancer Talazoparib B Predictive Supports Sensitivity/Response Rare Germline 3 28242752 Detail
Her2-receptor negative breast cancer Olaparib B Predictive Supports Sensitivity/Response Rare Germline 3 28578601 Detail
breast cancer Olaparib B Predictive Supports Sensitivity/Response Rare Germline 4 28792849 Detail
pancreatic cancer Olaparib B Predictive Supports Sensitivity/Response Rare Germline 4 25366685 Detail
pancreatic cancer Platinum Compound B Predictive Supports Sensitivity/Response Rare Germline 4 25072261 Detail
pancreatic cancer Veliparib,Cisplatin,Gemcitabine B Predictive Supports Sensitivity/Response Rare Germline 3 29338080 Detail
pancreatic cancer Veliparib B Predictive Does Not Support Sensitivity/Response Rare Germline 3 29223478 Detail
pancreatic cancer Iniparib C Predictive Supports Sensitivity/Response Rare Germline 3 21508395 Detail
pancreatic cancer Olaparib B Predictive Supports Sensitivity/Response 3 25366685 Detail
prostate cancer Olaparib B Predictive Supports Sensitivity/Response Somatic 4 26510020 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In pancreatic cell lines PL11 (FANCC-deficient) and CAPAN1 (BRCA2-mutated), sensitivity to DNA cross... CIViC Evidence Detail
In this phase 1 trial 60 patients with advanced solid tumors (ovarian, breast, colorectal, melanoma,... CIViC Evidence Detail
In a study of 2,019 patients with prostate cancer, 18 had germ-line BRCA1 mutations, 61 had germ-lin... CIViC Evidence Detail
In a study of ovarian carcinomas, 81% of tumors with germline BRCA1/2 mutations were platinum sensit... CIViC Evidence Detail
In a study of ovarian carcinomas, 87% of tumors with somatic BRCA1/2 mutations were platinum sensiti... CIViC Evidence Detail
664 patients with non-bulky FIGO Stage II-IV ovarian cancer were evaluated for PFS when treated with... CIViC Evidence Detail
46 women with platinum-sensitive, high-grade, BRCA1/2+ ovarian cancer received either olaparib monot... CIViC Evidence Detail
In an evaluation of 77 patients, those who had BRCA1/2 germline mutations (n=11) had an increase res... CIViC Evidence Detail
In a study of 63 patients with ovarian cancer, 17 patients had BRCA1 or BRCA2 mutations and 46 patie... CIViC Evidence Detail
In a study of 26 patients with breast cancer, 10 patients were BRCA-positive and 16 patients were BR... CIViC Evidence Detail
The authors show that in the CX-5461 and CX-3543, G-quadruplex stabilizing agents, demonstrate speci... CIViC Evidence Detail
The combination of PARP inhibition (Olaparib) with BRCA mutation results in irreparable and lethal D... CIViC Evidence Detail
In patients with invasive epithelial ovarian cancer, those with mutations in BRCA2 had better five-y... CIViC Evidence Detail
In part 2 of a two-part dose-escalation phase I trial (NCT01286987), 71 patients with Ewings sarcoma... CIViC Evidence Detail
In part 2 of a two-part dose-escalation phase I trial (NCT01286987), 71 patients with Ewings sarcoma... CIViC Evidence Detail
302 patients (234 with progression events) with HER2-negative metastatic breast cancer and with a co... CIViC Evidence Detail
Randomized, open-label, phase 3 trial in which olaparib monotherapy was compared with standard thera... CIViC Evidence Detail
Twenty-three patients with pancreatic cancer havoring BRCA1/2 germline mutations received olaparib. ... CIViC Evidence Detail
Patients with BRCA1/2 associated pancreatic adenocarcinoma were evaluated retrospectively. In patien... CIViC Evidence Detail
In Phase I study for pancreatic cancer patients GEM 600 mg/m2 + CDDP 25 mg/m2 + Veliparib 20 - 80 mg... CIViC Evidence Detail
Veliparib 400mg bid was administered to patients with germline BRCA1/2 mutated pancreatic cancer. Si... CIViC Evidence Detail
Patient with germline BRCA2 mutation underwent resection of pancreatic cancer. Around three years la... CIViC Evidence Detail
In multicenter phase II study included individuals with a germline BRCA1/2 mutation and pancreatic c... CIViC Evidence Detail
In a phase 2 trial of patients with metastatic, castration-resistant prostate cancer, treated with o... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr13:32,889,611-32,973,347
Variant Type
snv
Variant (CIViC) (CIViC Variant)
LOSS-OF-FUNCTION
Transcript 1 (CIViC Variant)
ENST00000380152.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/132
Summary (CIViC Variant)
BRCA2 loss of function mutations have been shown to increase risk of breast and ovarian cancer in those carrying the allele in their germline. Treating BRCA mutant patients with PARP inhibitors such as Olaparib has led to significant response.
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/186
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