|
rs145633958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant.
|
30072953 |
2018 |
|
rs773631693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant.
|
30072953 |
2018 |
|
rs11554290
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs.
|
27635947 |
2017 |
|
rs1800863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree.
|
27798940 |
2017 |
|
rs2075912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree.
|
27798940 |
2017 |
|
rs2565200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree.
|
27798940 |
2017 |
|
rs3026785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the frequency of the RET 3'UTR variants (rs76759170 and rs3026785) in MTC patients and to determine whether these variants are in LD with S836S polymorphism.
|
26829565 |
2016 |
|
rs377767442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We suggest that M918V MTC should be clinically considered an American Thyroid Association (ATA) moderate-risk category.
|
27807060 |
2016 |
|
rs750371239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only.
|
25425582 |
2015 |
|
rs777122776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel germline variant p.Ala639Thr was detected in MTC patient, which was determined to be likely benign.
|
26321248 |
2015 |
|
rs104894229
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs1057519855
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs121913530
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs104886028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Large-scale molecular dynamics simulations were completed for H-RAS wt and H-RAS M72I.Western blot analysis demonstrated that both MAPK and PI3K/Akt pathways were activated in the MTC patient carrying the M72I variant.
|
23934677 |
2013 |
|
rs781609053
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs747844360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found only a new RET variant (p.Gly550Glu) in one patient with MTC.
|
22648435 |
2012 |
|
rs143795581
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results, together with a recent report of co-segregation of the mutation in three MTC families, suggest that K666E is a causative MTC mutation.
|
21690267 |
2011 |
|
rs377767426
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
|
21711375 |
2011 |
|
rs183334241
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.
|
20013610 |
2010 |
|
rs34682185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.
|
20039896 |
2010 |
|
rs377767414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.
|
20013610 |
2010 |
|
rs377767427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.
|
20013610 |
2010 |
|
rs78081605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.
|
20013610 |
2010 |
|
rs148935214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma.
|
18322301 |
2008 |
|
rs377767395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All these findings demonstrate that the Y606C mutation is associated with RET constitutive activation and thus has to be considered of pathogenetic relevance in the development of MTC.
|
18248647 |
2008 |