Somatic mutations in the Notch, NF-KB, PIK3CA, and Hedgehog pathways in human breast cancers.

Jiao X, Wood LD, Lindman M, Jones S, Buckhaults P, Polyak K, Sukumar S, Carter H, Kim D, Karchin R, Sjöblom T

Genes Chromosomes Cancer 51 (5) 480-489 [2012-05-00; online 2012-02-03]

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.

Affiliated researcher

PubMed 22302350

DOI 10.1002/gcc.21935

Crossref 10.1002/gcc.21935

pmc: PMC3302210
mid: NIHMS353340


Publications 6.6.3