Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer
predisposition syndrome that results from biallelic germline mutations in one of the four …

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6
and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary …

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

DNA mismatch repair (MMR) is an important pathway which helps to maintain genomic
stability. Mutations in DNA MMR genes are found to promote cancer initiation and foster …

Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the
DNA mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. In the last 15 years, an …

Background Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood
cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly …

Constitutional mismatch repair deficiency (CMMRD) syndrome (also referred to as biallelic
mismatch repair deficiency) is an autosomal recessive disorder presenting with cutaneous …

Because they are generally noncoding and thus considered nonfunctional and unimportant,
pseudogenes have long been neglected. Recent advances have established that the DNA …

Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer
susceptibility syndrome resulting from biallelic germline loss‐of‐function mutations in one of …

Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR)
genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome …