A genome‐wide analysis of colorectal cancer in a child with Noonan syndrome

Noonan syndrome (NS) is a developmental syndrome caused by germline mutations in the Ras signaling pathway. No association has been shown between NS and pediatric colorectal cancer (CRC). We report the case of CRC in a pediatric patient with NS. The patient underwent whole genome sequencing. A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. No known hereditary cancer syndromes were identified. Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). This report highlights the complexity of Ras signaling and the interplay between developmental syndromes and cancer.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146377/1/pbc27362_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146377/2/pbc27362.pd