|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
A patient with RET M918T-mutant medullary thyroid cancer metastatic to the liver and an acquired RET V804M gatekeeper resistance mutation, previously treated with six MKI regimens, experienced rapid reductions in tumor calcitonin, CEA and cell-free DNA, resolution of painful hepatomegaly and tumor-related diarrhea and a confirmed tumor response.
|
29912274 |
2018 |
|
C-cell hyperplasia of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance.
|
29656518 |
2018 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain.
|
29912274 |
2018 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain.
|
29912274 |
2018 |
|
Hamartoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
|
fibroma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
|
Tumor Cell Invasion
|
|
0.010 |
GeneticVariation
|
BEFREE |
Functional characterization of transfected NIH3T3 cells in vitro (cell proliferation rate; cell viability; anchorage-independent cell growth; cell migration; and invasion) indicated that I852M mutant cells have transforming and migratory activities similar to American Thyroid Association (ATA) class A V804M mutants.
|
21711375 |
2011 |
|
Precancerous Conditions
|
|
0.010 |
GeneticVariation
|
BEFREE |
CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended.
|
18299477 |
2008 |
|
Adrenal Gland Pheochromocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.
|
17466010 |
2007 |
|
Malignant neoplasm of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
A rapid method for the purification of wild-type and V804M mutant ret catalytic domain: A tool to study thyroid cancer.
|
16490247 |
2006 |
|
Hyperparathyroidism, Primary
|
|
0.010 |
GeneticVariation
|
BEFREE |
PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
|
16865647 |
2006 |
|
Thyroid Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
A rapid method for the purification of wild-type and V804M mutant ret catalytic domain: A tool to study thyroid cancer.
|
16490247 |
2006 |
|
Thyroid carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, two gatekeeper mutations V804M and V804L in RET kinase domain have been frequently observed to cause drug resistance during the targeted therapy, largely limiting the application of reversible TKIs in TC.
|
27712045 |
2016 |
|
Columnar Cell Hyperplasia of the Breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hyperplasia (CCH), and PTC.
|
21134561 |
2010 |
|
Columnar Cell Hyperplasia of the Breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended.
|
18299477 |
2008 |
|
Thyroid carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A rapid method for the purification of wild-type and V804M mutant ret catalytic domain: A tool to study thyroid cancer.
|
16490247 |
2006 |
|
Papillary thyroid carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset REarranged during Transfection (RET) mutations (1 L790F carrier; 2 V804L and 2 S891A carriers).
|
21626080 |
2012 |
|
Papillary thyroid carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation.
|
21134561 |
2010 |
|
Papillary thyroid carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C?
|
19958926 |
2009 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?
|
27099842 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
|
25501606 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
|
26247112 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
|
26269449 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |