Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by
abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the …

Cancer is one of the most common causes of death worldwide. A strong predisposition to
cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2 …

Background Constitutional mismatch repair deficiency syndrome (CMMRD) is the most
aggressive cancer predisposition syndrome associated with multiorgan cancers, often …

The non-starter microbiota of Cheddar cheese mostly comprises mesophilic lactobacilli,
such as Lactobacillus casei, Lactobacillus paracasei, Lactobacillus rhamnosus, and …

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer
predisposition syndrome caused by biallelic germline mutations in one of four mismatch …

Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were
traditionally thought to be at comparable risk of developing a range of different …

Café au lait spots are common birthmarks seen sporadically and in association with several
genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by …

Purpose Biallelic germline mismatch repair (MMR) gene pathogenic variants (PVs) cause
constitutional MMR deficiency (CMMRD), a highly penetrant childhood cancer syndrome …

DNA repair pathways are essential for cellular survival as our DNA is constantly under
assault from both exogenous and endogenous DNA damaging agents. Five major …

Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive
hereditary cancer syndrome due to biallelic germline mutation involving one of the four DNA …