Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hamartoma Syndrome, Multiple
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."
|
22520842 |
2012 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden's disease is associated with germ-line mutations in the PTEN gene (10q22-23) and an increased risk of breast and thyroid malignancies.
|
11352305 |
2001 |
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome is a hereditary genetic disease whose incidence is still not precisely defined; it is due to a germline mutation in the PTEN gene.
|
15177429 |
2004 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome (CS) is a rare and complex disease inherited through an autosomal dominant trait associated with germline mutations of the PTEN gene.
|
16373153 |
2006 |
Hamartoma Syndrome, Multiple
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cowden syndrome is a non-adenomatous gastrointestinal polyposis syndrome with inactivation of PTEN, a dual-phosphatase tumor suppressor gene.
|
16964417 |
2006 |
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome.
|
21194675 |
2011 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden Syndrome (CS) patients with germ line point mutations in the PTEN gene are at high risk for developing breast cancer.
|
22103913 |
2011 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene, which is the tumor suppressor gene located on chromosome 10q23.3.
|
22371648 |
2012 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome is caused by germline mutations in PTEN and clinically characterized by hamartomas, macrocephaly, classic dermatologic stigmata, and an estimated 85 % lifetime risk of female breast cancer.
|
23132533 |
2012 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome is an autosomal dominant cancer syndrome associated with a germline PTEN mutation and increased risk of breast, thyroid, endometrial and colon cancer.
|
23279635 |
2013 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome is a rare condition resulting from a mutation in the tumor suppressor gene phosphatase and tensin homolog.
|
24838932 |
2014 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.
|
25149476 |
2015 |
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors.
|
29636101 |
2018 |
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
BEFREE |
PTEN SV analysis in 16 CS/CS-like patients and eight controls revealed that SV-5a is under-expressed and SV-3a over-expressed in the germline of CS/CS-like individuals when compared with controls.
|
16436456 |
2006 |
Hamartoma Syndrome, Multiple
|
1.000 |
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 |