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A genome‐wide analysis of colorectal cancer in a child with Noonan syndrome
dc.contributor.authorPrasad, Rahul M.
dc.contributor.authorMody, Rajen J.
dc.contributor.authorMyers, George
dc.contributor.authorMullins, Melisa
dc.contributor.authorNaji, Zaher
dc.contributor.authorGeiger, James D.
dc.date.accessioned2018-11-20T15:33:35Z
dc.date.available2020-01-06T16:40:59Zen
dc.date.issued2018-11
dc.identifier.citationPrasad, Rahul M.; Mody, Rajen J.; Myers, George; Mullins, Melisa; Naji, Zaher; Geiger, James D. (2018). "A genome‐wide analysis of colorectal cancer in a child with Noonan syndrome." Pediatric Blood & Cancer 65(11): n/a-n/a.
dc.identifier.issn1545-5009
dc.identifier.issn1545-5017
dc.identifier.urihttps://hdl.handle.net/2027.42/146377
dc.description.abstractNoonan 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.
dc.publisherWiley Periodicals, Inc.
dc.subject.othermolecular genetics
dc.subject.otherNoonan syndrome
dc.subject.otherpediatric hematology/oncology
dc.subject.otherrare tumors
dc.subject.othersolid
dc.subject.othertumors
dc.titleA genome‐wide analysis of colorectal cancer in a child with Noonan syndrome
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPediatrics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/146377/1/pbc27362_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/146377/2/pbc27362.pdf
dc.identifier.doi10.1002/pbc.27362
dc.identifier.sourcePediatric Blood & Cancer
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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