Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease. 12655146 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively. 16014636 2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE PTEN somatic mutations occur in sporadic tumors of the endometrium, brain, prostate, or melanomas, while germline mutations predispose to development of the multiple hamartoma syndromes (i.e., Cowden's disease and Bannayan-Zonana syndrome). 16487009 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE PTEN, originally linked to Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, has also been associated with JPS. 18178612 2008
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). 25170002 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Additionally, germ-line mutations of PTEN/MMAC1 are responsible for several familial neoplastic disorders, including Cowden disease and Bannayan-Zonana syndrome. 9354433 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Approximately, 10% of CS-related PTEN mutations occur in the PTEN promoter and 11% of BRRS-related mutations include large deletions, often favoring the gene's 5' end (exon 1, promoter). 17341483 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine. 15987703 2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. 27358095 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Cowden's disease (CD) and Bannayan-Ruvalcaba-Riley syndrome (BRRS) are allelic disorders characterized by multiple hamartomatous overgrowths of the thyroid, breast, skin, and gastrointestinal tract, and an increased risk of developing benign and malignant tumors of the breast and thyroid gland, secondary to germline point mutations in the PTEN gene. 15067177 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Furthermore, we review the PTEN mutation positive BRRS cases, to further delineate the phenotype and to compare the cases with a genomic deletion with the cases with a point mutation. 14574156 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Furthermore, we review the PTEN mutation positive BRRS cases, to further delineate the phenotype and to compare the cases with a genomic deletion with the cases with a point mutation. 14574156 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. 11685670 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease CTD_human Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). 10400993 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). 10400993 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Germ-line mutations of phosphatase and tensin homolog, deleted on chromosome ten (PTEN) are found in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a high risk of breast, thyroid, and other cancers; and Bannayan-Zonana syndrome, a related disorder. 10582703 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. 10749983 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 GeneticVariation disease BEFREE Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumor syndromes with an increased risk of breast, thyroid and endometrial cancers. 11854177 2002