Variant: rs75076352 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43114500
    Alleles of this Variant: T/A;C;G

rs75076352 in RET gene and Medullary carcinoma of thyroid PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 15184865 2004 Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.

rs75076352 in RET gene and Multiple Endocrine Neoplasia Type 1 PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75076352 in RET gene and Multiple Endocrine Neoplasia Type 2a PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

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 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

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

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

rs75076352 in RET gene and Multiple Endocrine Neoplasia Type 2b PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75076352 in RET gene and Multiple Endocrine Neoplasia, Type IV PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs75076352 in RET gene and Multiple endocrine neoplasia Type 2 PMID 11987030 2002 Molecular and biochemical screening for the diagnosis and management of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A.

PMID 18058472 2007 The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland.

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

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

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

PMID 19201392 2009 Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient.

PMID 15531714 2004 Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

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

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

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

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

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 9879991 1998 Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

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 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

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

PMID 25027091 2014 Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation.

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

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

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 24331334 2014 Multiple endocrine neoplasia type 2A: case report.

PMID 8765374 1996 [Detection of RET-proto-oncogene mutations in the diagnosis of Type 2 endocrine neoplasia (MEN 2)].

PMID 24784869 2014 Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies.

PMID 23617071 2013 Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

PMID 11939755 2002 Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 23861463 2013 Medullary thyroid cancer secreting carbohydrate antigen 19-9 (Ca 19-9): a fatal case report.

PMID 15472167 2004 A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.

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

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 21449769 2011 Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.

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

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

PMID 26356818 2015 RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

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

PMID 25515555 2015 RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.

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

PMID 9111993 1997 A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

PMID 7915822 1994 Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A.

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

PMID 7595171 1995 From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family.

PMID 12150334 2003 Clinical characteristics and genetic screening of an extended family with MEN2A.

PMID 7907913 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 26230854 2015 Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

PMID 26678667 2016 Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

PMID 27698838 2016 Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.

rs75076352 in RET gene and Neoplastic Syndromes, Hereditary PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

PMID 25515555 2015 RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.

PMID 23210566 2012 RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China.

PMID 24561444 2014 RET revisited: expanding the oncogenic portfolio.

PMID 24784869 2014 Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies.

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

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 23617071 2013 Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

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

PMID 7907913 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in 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.

rs75076352 in RET gene and Pheochromocytoma PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

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.

rs75076352 in RET gene and Thyroid carcinoma PMID 16778204 2006 The receptor-type protein tyrosine phosphatase J antagonizes the biochemical and biological effects of RET-derived oncoproteins.

PMID 11389085 2001 Nuclear factor-kappaB is constitutively active in C-cell carcinoma and required for RET-induced transformation.

PMID 23416954 2013 High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients.