| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ef416fe4f66ebb1021cecfb0ba5ae45d |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-4748
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2440-14
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-50
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-9108
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-4703 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-57449
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-57484
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-57496
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-57415
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2015-08-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_abe71328b5d5c555abf4a9fce91c4583
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8ba106c4cb872e17c2d7d11b7193e891
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a9496fe4a77cdd3a229d096c2c1a1078 |
| publicationDate |
2016-02-25-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2016028870-A1 |
| titleOfInvention |
Methods and compositions for assessing germline risk of cancer |
| abstract |
Heritable mutations in the BRCA1 and BRCA2 and other genes in the DNA double-strand break (DSB) repair pathway increase risk of breast, ovarian and other cancers. In response to DNA breaks, the proteins encoded by these genes bind to each other and are transported into the nucleus to form nuclear foci and initiate homologous recombination. Flow cytometry-based functional variant analyses (FVAs) were developed to determine whether variants in BRCA1 or other DSB repair genes disrupted the binding of BRCA1 to its protein partners, the phosphorylation of p53 or the transport of the BRCA1complex to the nucleus in response to DNA damage. Each of these assays distinguished high-risk BRCA1 mutations from low-risk BRCA1 controls. Mutations in other DSB repair pathway genes produced molecular phenocopies with these assays. FVA assays may represent an adjunct to sequencing for categorizing VUS or may represent a stand-alone measure for assessing breast cancer risk. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11650206-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2022341935-A1 |
| priorityDate |
2014-08-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |