RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Columnar Cell Hyperplasia of the Breast ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 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
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE In this study, we analyze whether stroma reaction seen by Tn-C expression is detected early in tumorigenesis of medullary thyroid carcinoma (MTC) including medullary microcarcinoma and C-cell hyperplasia (CCH), which is accepted to be a precursor lesion of MTC in the setting of RET oncogene germ-line mutation. 19484261 2009
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE RET proto-oncogen mutations were documented in 22 (8%) patients (medullary thyroid cancer:18, CCH:4). 18987170 2009
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended. 18299477 2008
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE Genotyping of SNPs located in RET codons 691, 769, 836, and 904 from 199 patients with MTC and CCH (basal calcitonin > 10 pg/mL, pentagastrin stimulated > 100 pg/mL) was performed, and the results were analyzed considering gender, age at diagnosis, and histopathology. 18976163 2008
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 AlteredExpression disease BEFREE RET genetic analyses were performed at the germline and tissue levels in MTC and CCH cases. 17639053 2007
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE The absence of RET alterations in all cases of CCH examined supports the hypothesis that the development of MTC is independent of pre-existing CCH in the nonfamilial setting; thus, sporadic CCH should not be considered a risk factor for nonfamilial MTC. 17384213 2007
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE We analyzed 6 MTCs and 1 C-cell hyperplasia (CCH) specimen from 7 patients with MEN2A and RET germline mutations in codons 609, 618, 620, or 634, using microdissection, microsatellite analysis, phosphorimage densitometry, and VHL mutation analysis. 16707008 2006
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. 15623805 2005
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 Biomarker disease BEFREE Seventeen cases of MTC or bilateral C-cell hyperplasia (CCH) and separate occult PTC were identified from 16 different families. 15588381 2004
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE The study objective was to investigate the impact of RET genotype on disease progression from C-cell hyperplasia (CCH) to MTC. 14555929 2003
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 Biomarker disease BEFREE We conclude that (1) clinical and pathological characteristics (familial MTC, tumor multifocality, neoplastic CCH) usually associated with hereditary MTC may be misleading and that on the contrary, RET sequencing gives no false positive result; (2) sporadic neoplastic CCH accompanies (and probably precedes) a number of sporadic MTC; and (3) women presenting with a sporadic elevated basal CT have a 100% risk of having an MTC (15/15), but this risk is 3-fold less in men (31%), who will most often have CCH only (69%). 12920219 2003
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 GeneticVariation disease BEFREE It is likely that the mutation causes familial medullary thyroid carcinoma (FMTC), because no other mutation was found in RET, the mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in patients subjected to surgery, and family members without the mutation are clinically unaffected. 14602786 2003
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.100 Biomarker disease BEFREE In some mice from established CALC-MEN2B-RET transgenic lines nodular CCH was observed from 8 months on whereas MTC was detected in 13% of mice from one CALC-MEN2B-RET line, from the age of 11 months on. 10871866 2000