| Abstrakt: |
MMR-deficient (MMR-D, n = 49) and MMR-proficient (MMR-P, n = 18) adenomas from LS patients as well as adenomas & carcinomas (n = 17) derived from a LS patient with a history of recurrent adenomas were assayed by methylation-specific multiplex ligation-dependent probe amplification and targeted sequencing. Inherited defects affecting the ability to repair DNA through DNA mismatch repair (MMR) is characteristic to a cancer syndrome known as Lynch syndrome (LS), which is the most common single cause of hereditary colorectal cancer. Carriers of a deleterious DNA mismatch repair (MMR) gene variant (deletion, stop codon) are cancer prone (Lynch syndrome, LS) and need surveillance to reduce cancer risk. We used the baseline estimates and 95% confidence intervals reported in three studies: (i) PLSD estimates for sex- and MMR gene-specific cumulative CRC risks in LS individuals without previous cancer and under colonoscopic surveillance [1]; (ii) hazard ratios associated with 3-yearly colonoscopic surveillance on CRC incidence reduction [2]; and (iii) MMR gene-specific cumulative risk of CRC in LS individuals who are not under colonoscopic surveillance [3]. • The UK NICE guidelines define Lynch syndrome as a cancer syndrome with high penetrance: I path PMS2 i variants are not causing a high penetrant dominantly inherited cancer syndrome: I path PMS2 i variants are not causing Lynch syndrome. [Extracted from the article] |
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