Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.

作者信息

Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir G M

出版信息

Am J Hum Genet. 1997 Jan;60(1):233-7.

PMID:8981969

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1712555/

Abstract

摘要

相似文献

Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.

Am J Hum Genet. 1997 Jan;60(1):233-7.

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.

J Clin Endocrinol Metab. 1998 Feb;83(2):487-91. doi: 10.1210/jcem.83.2.4529.

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s.

Hum Mol Genet. 1994 Aug;3(8):1259-62. doi: 10.1093/hmg/3.8.1259.

RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.

Horm Res. 1997;47(4-6):168-78. doi: 10.1159/000185461.

Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.

Am J Med. 1996 Dec;101(6):635-41. doi: 10.1016/s0002-9343(96)00330-0.

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

J Clin Endocrinol Metab. 1998 Mar;83(3):770-4. doi: 10.1210/jcem.83.3.4619.

[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers].

Medicina (B Aires). 2003;63(1):41-5.

[Early diagnosis of multiple endocrine neoplasia type 2 (MEN 2) by detection of mutated RET proto-oncogene carriers].

Medicina (B Aires). 1998;58(2):179-84.

Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation.

JAMA. 1999 May 5;281(17):1587-8. doi: 10.1001/jama.281.17.1587.

[From gene to disease; from the RET gene to multiple endocrine neoplasia types 2A and 2B, sporadic and familial medullary thyroid carcinoma, Hirschsprung disease and papillary thyroid carcinoma].

Ned Tijdschr Geneeskd. 2001 Nov 17;145(46):2217-21.

引用本文的文献

C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study.

Cancers (Basel). 2025 Jan 23;17(3):374. doi: 10.3390/cancers17030374.

[30 years of prophylactic thyroidectomy for hereditary medullary thyroid cancer : A milestone in translational medicine].

Chirurgie (Heidelb). 2024 Aug;95(8):638-650. doi: 10.1007/s00104-024-02105-x. Epub 2024 May 28.

Parental age effects and Rett syndrome.

Am J Med Genet A. 2024 Feb;194(2):160-173. doi: 10.1002/ajmg.a.63396. Epub 2023 Sep 28.

Neuroendocrine Tumors: Genomics and Molecular Biomarkers with a Focus on Metastatic Disease.

Cancers (Basel). 2023 Apr 12;15(8):2249. doi: 10.3390/cancers15082249.

Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?

Fam Cancer. 2022 Oct;21(4):473-478. doi: 10.1007/s10689-021-00282-w. Epub 2021 Oct 22.

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

BMC Cancer. 2021 Apr 7;21(1):369. doi: 10.1186/s12885-021-08116-9.

Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A.

Front Endocrinol (Lausanne). 2020 Oct 14;11:572151. doi: 10.3389/fendo.2020.572151. eCollection 2020.

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocr Connect. 2020 Jun;9(6):489-497. doi: 10.1530/EC-20-0163.

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Endocr Connect. 2018 Jun;7(6):829-839. doi: 10.1530/EC-18-0157. Epub 2018 May 14.

Reproductive genetics and the aging male.

J Assist Reprod Genet. 2018 Jun;35(6):933-941. doi: 10.1007/s10815-018-1148-y. Epub 2018 Mar 9.

本文引用的文献

Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.

J Clin Endocrinol Metab. 1996 Oct;81(10):3740-5. doi: 10.1210/jcem.81.10.8855832.

Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2.

Cancer Surv. 1995;25:195-205.

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF.

Cell. 1996 Jun 28;85(7):1113-24. doi: 10.1016/s0092-8674(00)81311-2.

Functional receptor for GDNF encoded by the c-ret proto-oncogene.

Nature. 1996 Jun 27;381(6585):785-9. doi: 10.1038/381785a0.

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

Hum Mol Genet. 1995 Oct;4(10):1987-8. doi: 10.1093/hmg/4.10.1987.

A polymorphic dinucleotide repeat at the ZNF22 locus.

Hum Mol Genet. 1993 Apr;2(4):491.

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

Nature. 1993 Jun 3;363(6428):458-60. doi: 10.1038/363458a0.

A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus.

Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):492-6. doi: 10.1073/pnas.90.2.492.

Parent-of-origin effects in multiple endocrine neoplasia type 2B.

Am J Hum Genet. 1994 Dec;55(6):1076-82.

Parental origin effects, genome imprinting, and sex-ratio distortion: double or nothing?

Am J Hum Genet. 1994 Dec;55(6):1073-5.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验