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A genome‐wide analysis of colorectal cancer in a child with Noonan syndrome
Author(s) -
Prasad Rahul M.,
Mody Rajen J.,
Myers George,
Mullins Melisa,
Naji Zaher,
Geiger James D.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27362
Subject(s) - noonan syndrome , germline , missense mutation , medicine , nonsense , colorectal cancer , germline mutation , nonsense mutation , mutation , cancer , cancer research , genetics , bioinformatics , biology , gene
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.

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