Test every possible mutation in every cancer gene so no result is 'uncertain'
Many people get a genetic result of uncertain significance, which cannot be acted on. Lab methods now let us test every possible variant in a gene in advance.
Saturation genome editing has classified nearly all BRCA1 single-nucleotide variants, and similar maps exist for parts of other genes. Propose a philanthropy-funded consortium to produce functional maps for the roughly 30 actionable hereditary cancer genes and submit them to ClinVar.
- Inherited risk is mostly unidentified · Most people who carry a high-risk cancer gene do not know it until they or a relative gets cancer.
- Biomarkers are not validated or standardised · Tests that decide who gets a drug are often not validated prospectively and are measured differently in every lab.
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not linked directly; found by shared links- IdeaEngineered immune surveillance: long-lived programmed immune cells that patrol for early cancer
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), TP53.
- IdeaGo back to families of women who died of ovarian cancer and offer BRCA testing
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD).
- IdeaLet clinics contact relatives directly when a cancer gene is found
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD).
- IdeaOffer everyone at 30 a test for the cancer genes that matter
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD).
- IdeaA bone drug to prevent breast cancer in BRCA1 carriers
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD).
- PersonLeif W. Ellisen
Shares BRCA1 / BRCA2 (HRD), TP53.
- IdeaWhole-body MRI plus blood DNA surveillance for people with Li-Fraumeni syndrome
- TechnologyIn vivo base and prime editing for cancer
Shares CRISPR functional genomics, TP53.