BRCA1 mutations

GPTKB entity

Statements (68)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:addressed support groups
gptkbp:affects quality of life
DNA repair
insurance coverage
family planning
reproductive choices
gptkbp:associated_with gptkb:Oncology
ovarian cancer
increased risk of cardiovascular disease
increased mortality risk
increased risk of liver cancer
increased risk of melanoma
increased risk of pancreatic neuroendocrine tumors
increased risk of testicular cancer
increased risk of thyroid cancer
gptkbp:can_be_discussed_with healthcare providers
gptkbp:can_be_screened_in high-risk populations
gptkbp:can_cause tumorigenesis
gptkbp:can_detect blood test
gptkbp:can_lead_to gptkb:hereditary_breast_and_ovarian_cancer_syndrome
informed decision-making
community awareness initiatives
psychological impact
financial implications
early onset of cancer
chemotherapy resistance
gptkbp:discovered_by gptkb:1990
gptkbp:has_influence_on treatment options
https://www.w3.org/2000/01/rdf-schema#label BRCA1 mutations
gptkbp:influence treatment decisions
clinical management
gptkbp:inherits_from either parent
autosomal dominant inheritance
gptkbp:investment gptkb:Oncology
gptkb:pancreatic_cancer
gptkbp:is_discussed_in genetic counseling
gptkbp:is_evaluated_by oncologists
gptkbp:is_explored_in research studies
genetic research
gptkbp:is_linked_to increased risk of skin cancer
male breast cancer
increased risk of bladder cancer
increased risk of colorectal cancer
increased risk of endometrial cancer
reduced fertility
increased risk of sarcoma
gptkbp:is_located_in chromosome 17
gptkbp:is_managed_by preventive measures
surveillance strategies
gptkbp:is_often_seen_in gptkb:Ashkenazi_Jewish_population
gptkbp:is_part_of personalized medicine approaches
multigene panel testing
gptkbp:is_recognized_by family history
sequencing techniques
gptkbp:is_studied_in clinical trials
gptkbp:may_be_followed_by regular screenings
gptkbp:requires lifestyle changes
lifestyle modifications
psychosocial support
ongoing monitoring
preventive surgery
gptkbp:resulted_in loss of function
gptkbp:screenings genetic testing
gptkbp:treatment PARP inhibitors
gptkbp:bfsParent gptkb:HER2-negative_breast_cancer
gptkb:triple-negative_breast_cancer
gptkbp:bfsLayer 6