Variant: rs75996173 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43114501
    Alleles of this Variant: G/A;C;T

rs75996173 in RET gene and Familial 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 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 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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 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 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.

rs75996173 in RET gene and Medullary carcinoma of thyroid PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75996173 in RET gene and Multiple Endocrine Neoplasia Type 1 PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75996173 in RET gene and Multiple Endocrine Neoplasia Type 2a PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.

PMID 7860065 1995 Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).

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

PMID 16099853 2005 Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.

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

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

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 8099202 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

PMID 25810047 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

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

PMID 12746565 2003 Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.

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

PMID 8626834 1996 Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.

PMID 26732158 2017 Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.

PMID 10522989 1999 A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.

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

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

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

PMID 9230192 1997 Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

PMID 9097963 1997 A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.

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

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

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 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 9384613 1998 Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

PMID 9950371 1999 High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.

PMID 9452064 1998 Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.

rs75996173 in RET gene and Multiple Endocrine Neoplasia Type 2b PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75996173 in RET gene and Multiple Endocrine Neoplasia, Type IV PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75996173 in RET gene and Multiple endocrine neoplasia Type 2 PMID 28099363 2017 Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.

PMID 25628771 2015 Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.

PMID 24716929 2014 Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer.

PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

PMID 24684035 2015 Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).

PMID 2008030 1991 Beyond generic occurrence screening.

PMID 23723040 2013 Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.

PMID 25629635 2015 High Discrepancy of Driver Mutations in Patients with NSCLC and Synchronous Multiple Lung Ground-Glass Nodules.

PMID 25440022 2015 Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?

PMID 12604374 2004 RET oncogene mutations in medullary thyroid carcinoma in Mexican families.

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 25143909 2014 RET mutations in a large indian family with medullary thyroid carcinoma.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 20739875 2010 Coincidence of multiple endocrine neoplasia type 2A with acromegaly.

PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

PMID 15452453 2004 Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre.

PMID 18062802 2008 Familial prevalence and age of RET germline mutations: implications for screening.

PMID 16712668 2006 Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal.

PMID 12864791 2003 Frequent association between MEN 2A and cutaneous lichen amyloidosis.

PMID 15277225 2004 The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma.

PMID 17895320 2007 RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.

PMID 16865647 2006 Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer.

PMID 11524247 2001 Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.

PMID 12711285 2003 Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.

PMID 11900218 2002 Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers.

PMID 9820617 1998 Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.

PMID 9230192 1997 Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

PMID 8099202 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

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

PMID 7914213 1994 Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.

PMID 8640806 1996 Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma.

PMID 7491519 1995 Early treatment of hereditary medullary thyroid carcinoma after attribution of multiple endocrine neoplasia type 2 gene carrier status by screening for ret gene mutations.

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

rs75996173 in RET gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs75996173 in RET gene and Neoplastic Syndromes, Hereditary PMID 9067749 1997 Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

PMID 25810047 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

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

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 28469506 2017 Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.

PMID 12686527 2003 Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.

PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

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

rs75996173 in RET gene and Pheochromocytoma PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

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