MLH1 methylation-induced deletions of the MLH1 protein are more common than mutations in the MMR gene. Multiple guidelines have recommended that in colorectal cancer (CRC) and endometrial cancer ...

The study included 25 individuals with a confirmed presence of the MLH1 gene mutation with a family history of at least two generations, geographic origin, site of tumour, and other details.

is caused by an expanded trinucleotide CAG repeat in the huntingtin gene, HTT. Ongoing expansion of the CAG tract in affected tissues, known as somatic expansion, correlates with an earlier age at ...

due to MLH1 promoter methylation (MLH1 me+). We investigate genetic alterations in the serrated polyposis pathway. Design We used a combination of exome sequencing and target gene Sanger sequencing to ...

Genetic modifiers in the DNA repair network operate via somatic expansion – a process whereby the HTT exon 1 CAG repeat tract expands throughout a patient’s lifetime – and includes the nuclease FAN1 ...