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 …

Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an
extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal …

Although cancer is rare in children and adolescents, it remains a leading cause of death
within this age range, and genetic predisposition is the main known risk factor. Since the …

Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2,
MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer …

Constitutional mismatch repair deficiency (CMMRD) is a rare syndrome characterized by an
increased incidence of cancer. It is caused by biallelic germline mutations in one of the four …

To the Editor: Frameshift neoantigen-based cancer prevention vaccines (eg, Nous-209,
NCT05078866) are being tested in clinical trials for patients with Lynch syndrome (LS) …

The use of whole-body MRI (WBMRI) in children, from infancy to adolescence, has
expanded rapidly over the past decade, with increasing uptake and a broadening range of …

Cancer susceptibility syndromes confer an increased lifetime risk of cancer and occur due to
germline likely-pathogenic or pathogenic variants in a cancer susceptibility gene. Clinical …

Simple Summary Endometrial cancer is becoming more common globally, mainly due to
factors such as aging populations and obesity. Despite the early detection in most cases, a …

Simple Summary Overall, this review offers a comprehensive and insightful exploration of
the significance, implementation, and challenges of genomic newborn screening for …