Somatic mutations in the Notch, NF-KB, PIK3CA, and Hedgehog pathways in human breast cancers.
Exome sequencing of human breast cancers has revealed a substantial number of candidate cancer genes with recurring but infrequent somatic mutations. To determine more accurately their mutation prevalence, we performed a mutation analysis of 36 novel candidate cancer genes in 96 human breast cancers. Somatic mutations with potential impact on protein function were observed in the genes ADAM12, CENTB1, CENTG1, DIP2C, GLI1, GRIN2D, HDLBP, IKBKB, KPNA5, NFKB1, NOTCH1, and OTOF. These findings strengthen the evidence for involvement of the Notch, Hedgehog, NF-KB, and PIK3CA pathways in breast cancer development, and point to novel processes that likely are involved.
Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Xiang
X
Jiao
Laura D
LD
Wood
Monica
M
Lindman
Sian
S
Jones
Phillip
P
Buckhaults
Kornelia
K
Polyak
Saraswati
S
Sukumar
Hannah
H
Carter
Dewey
D
Kim
Rachel
R
Karchin
Tobias
T
Sjöblom
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016328:NF-kappa B / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D051880:Receptors, Notch / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*
D053823:Hedgehog Proteins; D016328:NF-kappa B; D051880:Receptors, Notch; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human