Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R527*
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MEN1

NM_001370259.2:p.R527*

Associated Papers

Hsp70 incompletely disaggregates misfolded K488X-menin to promote tumourigenesis in a family with multiple endocrine neoplasia type 1.

Zeng Z et al.

Cellular Signalling, 2025

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1.

Yliaska I et al.

Endocrine, 2022

Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Luo R et al.

Npj Breast Cancer, 2021

34075047 (PubMed )
Supplement: 41523_2021_278_MOESM2_ESM.xlsx › Supplementary_Data_1

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Thymic Carcinoid as the First Manifestation of Multiple Endocrine Neoplasia Type 1 Syndrome: A Case Report and Review of the Literature.

Zheng M et al.

Annals of Clinical and Laboratory Science, 2020

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Mariathasan S et al.

Clinical Endocrinology, 2020

Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Khairi S et al.

Hormones & Cancer, 2020

Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.

Isailovic T et al.

Journal of Medical Biochemistry, 2019

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 2018

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Marini F et al.

Endocrine, 2018

Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.

Wong HL et al.

Cold Spring Harbor Molecular Case Studies, 2018

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Pardi E et al.

Plos One, 2017

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

Kong J et al.

Plos One, 2016

Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation.

Hasani-Ranjbar S et al.

Familial Cancer, 2014

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

Pieterman CR et al.

Annals of Surgery, 2012

Early-onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

Lourenço DM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

Identification of multiple endocrine neoplasia type 1 in patients with apparent sporadic primary hyperparathyroidism.

Yip L et al.

Surgery, 2008

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

Vierimaa O et al.

European Journal of Endocrinology, 2007

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

Cardinal JW et al.

Journal of Medical Genetics, 2005

Direct binding of DNA by tumor suppressor menin.

La P et al.

The Journal of Biological Chemistry, 2004

Functional studies of the MEN1 gene.

Chandrasekharappa SC et al.

Journal of Internal Medicine, 2003

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA et al.

Clinical Endocrinology, 2003

Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.

Perrier ND et al.

World Journal of Surgery, 2002

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

Vergès B et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Tumor suppressor loss in pituitary tumors.

Alexander JM

Brain Pathology (zurich, Switzerland), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Multiple endocrine neoplasia.

Thakker RV

Hormone Research, 2001

Expression analysis of endogenous menin, the product of the multiple endocrine neoplasia type 1 gene, in cell lines and human tissues.

Wautot V et al.

International Journal of Cancer, 2000

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Alternative genetic pathways in parathyroid tumorigenesis.

Farnebo F et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

Mutch MG et al.

Human Mutation, 1999

Multiple endocrine neoplasia type 1: clinical and genetic topics.

Marx S et al.

Annals of Internal Medicine, 1998

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Giraud S et al.

American Journal of Human Genetics, 1998

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Teh BT et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene.

Guru SC et al.

Journal of Internal Medicine, 1998

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ et al.

Journal of Internal Medicine, 1998

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH et al.

American Journal of Human Genetics, 1998

Mutations of the MEN1 tumor suppressor gene in pituitary tumors.

Zhuang Z et al.

Cancer Research, 1997

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Agarwal SK et al.

Human Molecular Genetics, 1997

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

Lemmens I et al.

Human Molecular Genetics, 1997

Localization of the multiple endocrine neoplasia type I (MEN1) gene based on tumor loss of heterozygosity analysis.

Emmert-Buck MR et al.

Cancer Research, 1997

Positional cloning of the gene for multiple endocrine neoplasia-type 1.

Chandrasekharappa SC et al.

Science (new York, N.y.), 1997

Haplotype analysis defines a minimal interval for the multiple endocrine neoplasia type 1 (MEN1) gene.

Debelenko LV et al.

Cancer Research, 1997

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