Article
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Genes, chromosomes & cancer - 1 Mar 2008
Swanson Kenneth D, Winter Jordan M, Reis Marcelo, Bentires-Alj Mohamed, Greulich Heidi, Grewal Rupinder, Hruban Ralph H, Yeo Charles J, Yassin Yosuf, Iartchouk Oleg, Montgomery Kate, Whitman Susan P, Caligiuri Michael A, Loh Mignon L, Gilliland D Gary, Look A Thomas, Kucherlapati Raju, Kern Scott E, Meyerson Matthew, Neel Benjamin G
Abstract excerpt
Germ line gain-of-function mutations in several members of the RAS/ERK pathway, including PTPN11, KRAS, and RAF1, cause the autosomal dominant genetic disorder Noonan Syndrome (NS). NS patients are at increased risk of leukemia/myeloproliferative disease and possibly some solid tumors, such as neuroblastoma. Recently, SOS1 gain of function mutations have also been shown to cause NS. Somatic PTPN11, KRAS, and RAF1...
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