|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7.
|
26678657 |
2016 |
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
CausalMutation
|
CLINVAR |
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
|
23335809 |
2013 |
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
CausalMutation
|
CLINVAR |
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
|
21194675 |
2011 |
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations of the human PTEN gene.
|
10923032 |
2000 |
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
CausalMutation
|
CLINVAR |
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
9259288 |
1997 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
|
28286253 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
|
25288137 |
2015 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
|
22162589 |
2012 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
|
22162582 |
2012 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
|
21956414 |
2011 |
|
Non-Small Cell Lung Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
The PI3K pathway as drug target in human cancer.
|
20085938 |
2010 |
|
Mammary Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The PI3K pathway as drug target in human cancer.
|
20085938 |
2010 |
|
Non-Small Cell Lung Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Somatic mutations in epidermal growth factor receptor signaling pathway genes in non-small cell lung cancers.
|
20881644 |
2010 |
|
Non-Small Cell Lung Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTEN mutations and relationship to EGFR, ERBB2, KRAS, and TP53 mutations in non-small cell lung cancers.
|
20018398 |
2010 |
|
Mammary Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
|
20453058 |
2010 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
20619739 |
2010 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
|
20453058 |
2010 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
PIK3CA mutations predict local recurrences in rectal cancer patients.
|
19903786 |
2009 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.
|
19366826 |
2009 |
|
Non-Small Cell Lung Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTEN loss contributes to erlotinib resistance in EGFR-mutant lung cancer by activation of Akt and EGFR.
|
19351834 |
2009 |
|
Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
|
18725974 |
2008 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
|
18558293 |
2008 |