rs79781594
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.030
GeneticVariation
BEFREE
Mice expressing RET(C618F ) display mild C cell hyperplasia and increased numbers of enteric neurons, indicating that RET(C618F ) confers gain-of-function phenotypes.
30884088 2019
rs79781594
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.030
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
rs79781594
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.030
GeneticVariation
BEFREE
Histopathology revealed bilateral/unilateral MTC in 15/17 (88.2%; median diameter, 1.0 cm) and bilateral C-cell hyperplasia in 2/17 (11.8%; p.V292M/R67H/R982C and p.C618Y ).
23849459 2013
rs75030001
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.020
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
rs75030001
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.020
GeneticVariation
BEFREE
The thyroid gland histology of L790F carriers revealed medullary thyroid carcinoma in two patients (aged 29 and 50 years) and C-cell hyperplasia in two additional patients (aged 9 and 16 years).
12409662 2002
rs377767397
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs377767398
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs74799832
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs75076352
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs75996173
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs76262710
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs77316810
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs78014899
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs79658334
×
Entrez Id: 5979
Gene Symbol: RET
RET
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
rs377767442
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.010
GeneticVariation
BEFREE
Until today, 20/50 M918V carriers underwent thyroidectomy and all presented MTC/C-cell hyperplasia ; the remainder carriers are on clinical follow-up.
27807060 2016
rs17158558
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.010
GeneticVariation
BEFREE
Histopathology revealed bilateral/unilateral MTC in 15/17 (88.2%; median diameter, 1.0 cm) and bilateral C-cell hyperplasia in 2/17 (11.8%; p.V292M/R67H/R982C and p.C618Y).
23849459 2013
rs34682185
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.010
GeneticVariation
BEFREE
Histopathology revealed bilateral/unilateral MTC in 15/17 (88.2%; median diameter, 1.0 cm) and bilateral C-cell hyperplasia in 2/17 (11.8%; p.V292M /R67H/R982C and p.C618Y).
23849459 2013
rs377767404
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.010
GeneticVariation
BEFREE
There was considerable variability of malignant progression from C-cell hyperplasia to MTC in carriers of the Cys630Arg genotype.
15523405 2004
rs77709286
×
Entrez Id: 5979
Gene Symbol: RET
RET
C-cell hyperplasia of thyroid
0.010
GeneticVariation
BEFREE
Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia .
11939755 2002