Condition: Multiple Endocrine Neoplasia Type 2b


rs377767404 in RET gene and Multiple Endocrine Neoplasia Type 2b PMID 10490816 1999 The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.

PMID 8595427 1995 Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.

PMID 21186952 2011 We present the clinical data for a family with MEN-2B associated with RET-A883F mutation.

PMID 10445857 1999 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

PMID 9294615 1997 Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

PMID 15281979 2004 External ophthalmic findings in multiple endocrine neoplasia type 2B.

PMID 7906866 1994 A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

PMID 7911697 1994 Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

PMID 8807338 1996 Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.

PMID 9360560 1997 Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.

PMID 28323957 2017 Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 10679286 2000 A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.

PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

PMID 8880581 1996 Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

PMID 17848262 2007 Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 22992277 2012 Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation).

PMID 21863057 2012 Clinical utility gene card for: multiple endocrine neoplasia type 2.

PMID 7824936 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.

PMID 19240193 2009 Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.

PMID 15753368 2005 RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

PMID 9012462 1997 The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype.

PMID 20979234 2011 Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

PMID 7915165 1994 Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.

PMID 20664475 2010 The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.

PMID 19443294 2009 Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.

PMID 18976013 2008 Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.

PMID 19826964 2009 RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.

PMID 8909322 1996 Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.

PMID 7874109 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families.

PMID 21934104 2011 Familial pediatric endocrine tumors.

PMID 12016484 2002 Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations.

PMID 11230481 2001 Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

PMID 12116277 2002 A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma.