|
Pheochromocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
No associations between G12S and age of manifestation, incidence of pheochromocytoma or hyperparathyroidism, or level of serum calcitonin were observed.
|
22584711 |
2012 |
|
Adrenal Gland Pheochromocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
No associations between G12S and age of manifestation, incidence of pheochromocytoma or hyperparathyroidism, or level of serum calcitonin were observed.
|
22584711 |
2012 |
|
Adrenal Gland Pheochromocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A G12S variant of the SDHD gene was found in one patient affected by a PHEO.
|
17102085 |
2006 |
|
Pheochromocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A G12S variant of the SDHD gene was found in one patient affected by a PHEO.
|
17102085 |
2006 |
|
Pheochromocytoma, Extra-Adrenal
|
|
0.020 |
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 |
|
Pheochromocytoma, Extra-Adrenal
|
|
0.020 |
GeneticVariation
|
BEFREE |
Another patient with malignant, extra-adrenal pheochromocytoma was found to have germ-line c.34G> A (G12S).
|
11156372 |
2000 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Neoplasms
|
|
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.010 |
GeneticVariation
|
BEFREE |
The high prevalence of the G12S variant in patients with multiple endocrine neoplasia type 2A raises questions about its role as a genetic modifier, but this proposal remains to be established.
|
22584711 |
2012 |
|
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 |