present in Gene: PTEN
present in Chromosome: 10
Position on Chromosome: 87933236
Alleles of this Variant: G/A;T
rs1057519724 in
PTEN gene and
Colorectal Neoplasms
PMID 22162582 2012 Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 19366826 2009 PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.
PMID 19903786 2009 PIK3CA mutations predict local recurrences in rectal cancer patients.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 15254419 2004 The PIK3CA gene is mutated with high frequency in human breast cancers.
rs1057519724 in
PTEN gene and
Mammary Neoplasms
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 20085938 2010 The PI3K pathway as drug target in human cancer.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.
rs1057519724 in
PTEN gene and
PTEN Hamartoma Tumor Syndrome
PMID 29706350 2018 A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.