Lynch syndrome
Lynch syndrome is the most common inherited cancer syndrome: a faulty mismatch-repair gene raises lifetime bowel cancer risk to 40-80% and also endometrial and other cancers.
Germline MLH1, MSH2, MSH6, PMS2, or EPCAM variants; ~3% of CRC and 1 in ~280 people. Colonoscopy every 1-2 years from age 20-25, aspirin chemoprevention (CAPP2), and risk-reducing hysterectomy. Lynch tumours are dMMR and highly immunotherapy-responsive; frameshift neoantigen vaccines (Nous-209) aim at prevention.
People with Lynch syndrome should be offered daily aspirin, which roughly halves bowel cancer risk with a delayed and durable effect. Whether a lower dose (as tested in CAPP3) is as effective, and whether the finding extends to the general population, are separate questions.
Because Lynch syndrome tumours make the same abnormal proteins in almost every patient, a single vaccine could in principle be given to carriers before cancer develops. This small trial showed the concept is safe and immunogenic; whether it prevents cancer requires the randomised trials now being planned.
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not linked directly; found by shared links- IdeaGet every Lynch syndrome carrier onto the right dose of aspirin
Shares CAPP2: two years of aspirin cuts bowel cancer in Lynch syndrome by more than a third over 10 years, Aspirin for cancer prevention and adjuvant therapy, Chemoprevention & risk-reducing surgery, Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR).
- IdeaA frameshift neoantigen vaccine for Lynch syndrome carriers as the first preventive cancer vaccine approval
Shares First trial of a vaccine against the shared neoantigens of mismatch-repair-deficient cancers, Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR), Inherited risk is mostly unidentified, Endometrial cancer.
- IdeaPopulation germline screening for hereditary cancer genes with cascade testing
Shares Germline vs somatic mutations, Chemoprevention & risk-reducing surgery, Inherited risk is mostly unidentified, Germline (hereditary) testing.
- IdeaA randomised trial of a shared-antigen vaccine to prevent Lynch syndrome cancers
Shares First trial of a vaccine against the shared neoantigens of mismatch-repair-deficient cancers, Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR), Inherited risk is mostly unidentified, Endometrial cancer.
- PersonAngelina Jolie
Shares Hereditary cancer syndromes, Germline vs somatic mutations, Chemoprevention & risk-reducing surgery, Inherited risk is mostly unidentified.
- IdeaAutomatic germline testing for every cancer type where it changes care
Shares Germline vs somatic mutations, Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR), Inherited risk is mostly unidentified, Germline (hereditary) testing.
- IdeaCancer interception vaccines for high-risk carriers
Shares First trial of a vaccine against the shared neoantigens of mismatch-repair-deficient cancers, Chemoprevention & risk-reducing surgery, Inherited risk is mostly unidentified, Germline (hereditary) testing.
- IdeaGet biomarker-directed aspirin after colorectal surgery into labels and guidelines
Shares CAPP2: two years of aspirin cuts bowel cancer in Lynch syndrome by more than a third over 10 years, Aspirin for cancer prevention and adjuvant therapy, No incentive to repurpose cheap drugs, Colorectal cancer.