TY - JOUR
T1 - The duality of human oncoproteins
T2 - drivers of cancer and congenital disorders
AU - Castel, Pau
AU - Rauen, Katherine A.
AU - McCormick, Frank
PY - 2020/7/1
Y1 - 2020/7/1
N2 - Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and death. Although oncoproteins were discovered many years ago and have been widely studied in the context of cancer, the recent use of high-throughput sequencing techniques has led to the identification of cancer-associated mutations in other conditions, including many congenital disorders. These syndromes offer an opportunity to study oncoprotein signalling and its biology in the absence of additional driver or passenger mutations, as a result of their monogenic nature. Moreover, their expression in multiple tissue lineages provides insight into the biology of the proto-oncoprotein at the physiological level, in both transformed and unaffected tissues. Given the recent paradigm shift in regard to how oncoproteins promote transformation, we review the fundamentals of genetics, signalling and pathogenesis underlying oncoprotein duality.
AB - Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and death. Although oncoproteins were discovered many years ago and have been widely studied in the context of cancer, the recent use of high-throughput sequencing techniques has led to the identification of cancer-associated mutations in other conditions, including many congenital disorders. These syndromes offer an opportunity to study oncoprotein signalling and its biology in the absence of additional driver or passenger mutations, as a result of their monogenic nature. Moreover, their expression in multiple tissue lineages provides insight into the biology of the proto-oncoprotein at the physiological level, in both transformed and unaffected tissues. Given the recent paradigm shift in regard to how oncoproteins promote transformation, we review the fundamentals of genetics, signalling and pathogenesis underlying oncoprotein duality.
UR - http://www.scopus.com/inward/record.url?scp=85084223774&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85084223774&partnerID=8YFLogxK
U2 - 10.1038/s41568-020-0256-z
DO - 10.1038/s41568-020-0256-z
M3 - Review article
C2 - 32341551
AN - SCOPUS:85084223774
VL - 20
SP - 383
EP - 397
JO - Nature Reviews Cancer
JF - Nature Reviews Cancer
SN - 1474-175X
IS - 7
ER -