|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
In summary, our data suggest a novel mechanism whereby SDHD germline variants SDHD-G12S or SDHD-H50R induce thyroid tumorigenesis mediated by PTEN accumulation in the nucleus and may shed light on potential treatment with SRC inhibitors like bosutinib in PTEN-wild-type SDHD-variant/mutation positive CS/CSL patients and sporadic thyroid neoplasias.
|
25149476 |
2015 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Another alteration was detected in exon 2 but was lacking in tumor DNA and therefore classified as polymorphism (H50R).
|
15066320 |
2004 |
|
Primary differentiated carcinoma of thyroid gland
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our current study shows that SDHD-G12S and -H50R variants cause down-regulation of autophagy, demonstrating a role for SDHD in autophagy-associated pathogenesis of differentiated thyroid cancer.
|
28164237 |
2017 |
|
Thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have previously shown that CS-associated SDHD variants G12S and H50R induce PTEN oxidation and nuclear accumulation in thyroid cancer.
|
28164237 |
2017 |
|
Malignant neoplasm of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have previously shown that CS-associated SDHD variants G12S and H50R induce PTEN oxidation and nuclear accumulation in thyroid cancer.
|
28164237 |
2017 |
|
Thyroid Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have previously shown that CS-associated SDHD variants G12S and H50R induce PTEN oxidation and nuclear accumulation in thyroid cancer.
|
28164237 |
2017 |
|
Differentiated Thyroid Gland Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our current study shows that SDHD-G12S and -H50R variants cause down-regulation of autophagy, demonstrating a role for SDHD in autophagy-associated pathogenesis of differentiated thyroid cancer.
|
28164237 |
2017 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In summary, our data suggest a novel mechanism whereby SDHD germline variants SDHD-G12S or SDHD-H50R induce thyroid tumorigenesis mediated by PTEN accumulation in the nucleus and may shed light on potential treatment with SRC inhibitors like bosutinib in PTEN-wild-type SDHD-variant/mutation positive CS/CSL patients and sporadic thyroid neoplasias.
|
25149476 |
2015 |
|
Hamartoma Syndrome, Multiple
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutations in the PTEN tumor-suppressor gene and germline variations in succinate dehydrogenase subunit D gene (SDHD-G12S, SDHD-H50R) are associated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS/CSL) and confer high risk of breast, thyroid and other cancers.
|
25149476 |
2015 |
|
Follicular thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show SDHD-G12S and SDHD-H50R lead to impaired PTEN function through alteration of its subcellular localization accompanied by resistance to apoptosis and induction of migration in both papillary and follicular thyroid carcinoma cell lines.
|
25149476 |
2015 |
|
Medullary carcinoma of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients.
|
15623805 |
2005 |
|
Pheochromocytoma, Extra-Adrenal
|
|
0.010 |
GeneticVariation
|
BEFREE |
A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland.
|
12386824 |
2002 |
|
Paraganglioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland.
|
12386824 |
2002 |