Statements (141)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_with |
gptkb:Oncology
gptkb:pancreatic_cancer ovarian cancer male breast cancer |
| gptkbp:case_analysis |
gptkb:Association_for_Molecular_Pathology_v._Myriad_Genetics
|
| gptkbp:clinical_trial |
genetic testing
high risk for breast cancer high risk for ovarian cancer |
| gptkbp:code |
gptkb:protein
tumor suppressor protein |
| gptkbp:discovered_by |
gptkb:1990
gptkb:Mary-Claire_King |
| gptkbp:diseases |
gptkb:Oncology
ovarian cancer fallopian tube cancer male breast cancer peritoneal cancer |
| gptkbp:genetic_studies |
increased cancer risk
familial breast cancer familial ovarian cancer increases cancer risk |
| gptkbp:has_impact_on |
treatment decisions
|
| gptkbp:has_role |
tumor suppressor
genomic stability cellular response to DNA damage |
| gptkbp:has_variants |
gptkb:BRCA1_185del_AG
gptkb:BRCA1_4075del_A gptkb:BRCA1_5382ins_C gptkb:BRCA1_C61_G gptkb:BRCA1_R1699_Q gptkb:BRCA1_4153del_A BRCA1 2796 T> G |
| https://www.w3.org/2000/01/rdf-schema#label |
BRCA1
|
| gptkbp:initiated_by |
cell proliferation
|
| gptkbp:interacts_with |
gptkb:BRCA2
gptkb:RAD51 |
| gptkbp:invention |
gptkb:Myriad_Genetics
|
| gptkbp:involved_in |
DNA repair
homologous recombination |
| gptkbp:is_associated_with |
gptkb:Oncology
gptkb:pancreatic_cancer increased risk of other cancers male breast cancer age of onset for breast cancer ethnic background in cancer risk survivorship outcomes in cancer patients |
| gptkbp:is_essential_for |
homologous recombination
genomic stability |
| gptkbp:is_expressed_in |
gptkb:embryonic_development
breast tissue ovarian tissue |
| gptkbp:is_found_in |
gptkb:humans
|
| gptkbp:is_involved_in |
cell cycle regulation
cellular homeostasis chromatin remodeling homologous recombination tumor suppression tumorigenesis cellular signaling pathways cellular repair mechanisms cellular response to DNA damage telomere maintenance cellular response to hypoxia cellular response to ionizing radiation cellular response to oxidative stress cellular apoptosis cellular response to UV radiation cellular response to chemical stress cellular response to DNA replication stress repair of double-strand breaks repair of single-strand breaks cellular response to telomere shortening cellular response to DNA cross-linking agents cellular response to DNA methylation changes cellular response to chromatin remodeling. cellular response to mitotic spindle checkpoint |
| gptkbp:is_linked_to |
gptkb:Oncology
gptkb:hereditary_breast_and_ovarian_cancer_syndrome gptkb:pancreatic_cancer fertility issues fallopian tube cancer male breast cancer environmental factors in cancer risk increased mortality in cancer patients |
| gptkbp:is_located_in |
gptkb:Atom
chromosome 17 |
| gptkbp:is_part_of |
gptkb:BRCA1-BARD1_complex
gptkb:BRCA1-RAP80_complex DNA damage response pathway cancer genetics DNA repair machinery BRCA1-Ct IP complex |
| gptkbp:is_recognized_as |
gptkb:1990
familial breast cancer cases |
| gptkbp:is_recognized_by |
familial cases of breast cancer
|
| gptkbp:is_regulated_by |
hormones
estrogen |
| gptkbp:is_studied_for |
targeted therapies
preventive measures in at-risk populations |
| gptkbp:is_studied_in |
clinical trials
cancer research |
| gptkbp:is_targeted_at |
gptkb:gene_therapy
PARP inhibitors |
| gptkbp:located_in |
chromosome 17
human chromosome 17 |
| gptkbp:mutation_types |
frameshift mutations
nonsense mutations |
| gptkbp:mutations_can_lead_to |
tumorigenesis
|
| gptkbp:mutations_lead_to |
increased cancer risk
increased risk of breast cancer |
| gptkbp:part_of |
gptkb:BRCA_gene_family
gptkb:BRCA_family |
| gptkbp:polymorphisms_associated_with |
cancer susceptibility
|
| gptkbp:promoter |
gptkb:BRCA1
|
| gptkbp:promotes |
DNA double-strand break repair
|
| gptkbp:regulates |
cell cycle
apoptosis gene expression |
| gptkbp:research_focus |
genetic testing
targeted therapies cancer genetics preventive surgery |
| gptkbp:seed_dispersal |
tumor suppressor gene
|
| gptkbp:targets |
genetic testing
|
| gptkbp:test_available_for |
genetic testing
|
| gptkbp:transcriptionally_activates |
other genes
|
| gptkbp:transcriptionally_regulated_by |
gptkb:c-Myc
gptkb:NF-k_B gptkb:TP53 |
| gptkbp:variants_can_cause |
loss of function
|
| gptkbp:variants_can_lead_to |
increased tumorigenesis
|
| gptkbp:was_patented_by |
gptkb:Myriad_Genetics
|
| gptkbp:was_sequenced_in |
human genome project
|
| gptkbp:works_with |
gptkb:CHEK2
gptkb:PALB2 gptkb:RAD51 ATM |
| gptkbp:bfsParent |
gptkb:Lynparza
gptkb:BRCA2 |
| gptkbp:bfsLayer |
5
|