|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC can be sporadic (75%) or familial (25%) and the 2 forms are distinguished by RET mutations analysis.
|
30717909 |
2019 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.
|
31510104 |
2019 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.
|
29396759 |
2018 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The remaining two were RET-negative with familial medullary thyroid cancer (FMTC).
|
29336779 |
2018 |
|
Familial medullary thyroid carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Epigenetic regulation of RET receptor tyrosine kinase and non-coding RNAs in MTC.
|
28315378 |
2018 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
When grouped by mutational risk (highest; high; moderate-high; low-moderate; polymorphism), the age-related progression of MTC was significant for all four categories of RET mutations, which differed significantly across and within the three histopathological groups.
|
29656518 |
2018 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Expression analysis found an increase of RET transcript in p.Cys630=;p.Cys634Arg patient compared with that found in 7 MTCs harboring p.Cys634 mutations.
|
30321177 |
2018 |
|
Familial medullary thyroid carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Together these findings identify germline ESR2 mutation as a novel cause of familial MTC/CCH and provide important insights into a novel mechanism causing increased RET expression in tumourigenesis.
|
26945007 |
2016 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.
|
27807060 |
2016 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, 131 patients underwent surgery for RET-negative MTC.
|
27271930 |
2016 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Polyphen-2 Hum Div/Var may provide additional clinical data to help distinguish benign from MEN2/familial medullary thyroid carcinoma-causing RET variants as well as less aggressive phenotypes (ATA A) from more aggressive ones (ATA B-C).
|
25733075 |
2015 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
|
25501606 |
2015 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RET gene are responsible for hereditary medullary thyroid cancer (MTC) and may vary between ethnic groups.
|
25624014 |
2015 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated a Chinese family with FMTC/CA and found a recurrent RET c.2671T>G (p.S891A) mutation in six of 17 family members.
|
26356818 |
2015 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prophylactic thyroidectomy can be curative for patients with hereditary medullary thyroid cancer (MTC) caused by RET proto-oncogene mutations.
|
24882762 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer.
|
24716929 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.
|
24699901 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
|
24845513 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC is primarily associated with mutations in the rearranged during transfection (RET) proto-oncogene.
|
24449662 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rearranged during transfection (RET) mutations are well-known genetic events in sporadic and familial medullary thyroid carcinoma (FMTC).
|
25163725 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Systematic prophylactic total thyroidectomy in patients with a RET proto-oncogene mutation allowed early diagnosis of MTC in one-third of cases.
|
24993783 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R).
|
24828033 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The effective management of patients with MEN2A, MEN2A, and FMTC depends on an understanding of the variable behavior of disease expression in patients with a specific RET mutation.
|
23744408 |
2013 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty years ago, the groundbreaking discovery that rearranged during transfection (RET) mutations underlie multiple endocrine neoplasia 2 (MEN2) and familial medullary thyroid cancer (FMTC) ushered in the era of personalized medicine.
|
23211574 |
2013 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04).
|
23780998 |
2013 |