Condition: Familial medullary thyroid carcinoma


rs377767434 in RET gene and Familial medullary thyroid carcinoma PMID 10323403 1999 A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.

PMID 7784092 1995 RET mutations in exons 13 and 14 of FMTC patients.

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

PMID 9223675 1997 Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.

PMID 11692159 2001 Three novel mutations in the RET proto-oncogene.

PMID 7845675 1995 A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.

PMID 10826520 2000 A RET double mutation in the germline of a kindred with FMTC.

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

PMID 7849720 1994 RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.

PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

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 8103403 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

PMID 9452077 1998 A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.

PMID 9621513 1998 Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.

PMID 8557249 1996 Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.

PMID 8625130 1995 Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.

PMID 9506724 1998 A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.

PMID 9259198 1997 Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.

PMID 9677065 1998 Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.

PMID 9398735 1997 A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.

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

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

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

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

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

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 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 9259198 1997 Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.