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Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment
Constitutional microsatellite instability, genotype, and phenotype correlations in constitutional mismatch repair deficiency
No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants
Risk-reducing gynecological surgery in Lynch syndrome
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes