Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L83_S84delFs
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MEN1

NM_001370259.2:p.L83_S84delFs

Associated Papers

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Fadda A et al.

International Journal of Molecular Sciences, 2025

40565278 (PubMed )
Supplement: ijms-26-05815-s001.zip › Table_S1._Clinical_and_genetic_data_and_HLA_typing.xlsx › Genetic_data

Rare Combination of Multiple Endocrine Neoplasia 1 with Medullary Thyroid Carcinoma and Clinical Value of 68 Ga-DOTATATE PET/CT in Diagnosing Different Lesions and Exploring Theranostic Strategy.

Baberwal P et al.

World Journal of Nuclear Medicine, 2025

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression.

van Leeuwaarde RS et al.

Familial Cancer, 2024

A Cohort Study of CNS Tumors in Multiple Endocrine Neoplasia Type 1.

Graillon T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance.

Carsote M et al.

International Journal of Molecular Sciences, 2024

Updates on the genetics of multiple endocrine neoplasia.

Sahakian N et al.

Annales D'endocrinologie, 2024

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

Challenges in molecular diagnosis of multiple endocrine neoplasia.

Romanet P et al.

Frontiers in Endocrinology, 2024

Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients.

Aguilar-Riera C et al.

Clinical Diabetes and Endocrinology, 2023

Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.

Jacquart A et al.

Clinical Genetics, 2023

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism.

Kaur G et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Xu M et al.

Genes, 2022

36140756 (PubMed )
Supplement: genes-13-01588-s001.zip › Supplementary_Tables.pdf

An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

Kosugi R et al.

Journal of the Endocrine Society, 2022

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 2022

Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience.

Yavropoulou MP et al.

Journal of Clinical Medicine, 2022

GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1.

Srirangam Nadhamuni V et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2021

The Management of Neuroendocrine Tumors of the Lung in MEN1: Results From the Dutch MEN1 Study Group.

van den Broek MFM et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma.

Maria BC et al.

Bmj Case Reports, 2020

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Hu WM et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs

18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.

Tepede AA et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome.

Kövesdi A et al.

Endocrine, 2019

31044390 (PubMed )
Supplement: 12020_2019_1932_MOESM2_ESM.xlsx › Supplementary_Table_1

[Multiple Endocrine Neoplasia].

Uchino S et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2019

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Robotic enucleation for pediatric insulinoma with MEN1 syndrome: a case report and literature review.

Liang M et al.

Bmc Surgery, 2018

High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.

Ji S et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations.

Cetani F et al.

Journal of Surgical Oncology, 2017

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.

Mamedova E et al.

Endocrine Connections, 2017

MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism.

Grolmusz VK et al.

Virchows Archiv : an International Journal of Pathology, 2017

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

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13

Concomitant existence of pheochromocytoma in a patient with multiple endocrine neoplasia type 1.

Okada R et al.

Surgical Case Reports, 2016

Aberrant Menin expression is an early event in pancreatic neuroendocrine tumorigenesis.

Hackeng WM et al.

Human Pathology, 2016

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

Kong J et al.

Plos One, 2016

EUS is superior for detection of pancreatic lesions compared with standard imaging in patients with multiple endocrine neoplasia type 1.

van Asselt SJ et al.

Gastrointestinal Endoscopy, 2015

[TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].

Mamedova EO et al.

Klinicheskaia Meditsina, 2015

Genomic landscape of pancreatic neuroendocrine tumors.

Gebauer N et al.

World Journal of Gastroenterology, 2014

Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients.

de Laat JM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).

Thakker RV

Molecular and Cellular Endocrinology, 2014

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

Alvelos MI et al.

European Journal of Endocrinology, 2013

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

Cromer MK et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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

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