Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K119del1
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MEN1

NM_001370259.2:p.K119del1

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

Adolescent primary hyperparathyroidism.

Sharma A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

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

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

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Venizelos A et al.

Endocrine-related Cancer, 2021

34647903 (PubMed )
Supplement: supplementary_table_4.xlsx › Targetable_in_NETG3

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

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._Whole-genome_SNVs

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

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

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

Expression of p27Kip1 and p18Ink4c in human multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors.

Conemans EB et al.

Journal of Endocrinological Investigation, 2018

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

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.

Bhatti TR et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

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

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

Shimazu S et al.

Cancer Science, 2011

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Lemos MC et al.

Human Mutation, 2008

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

Klein RD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Non-islet origin of pancreatic islet cell tumors.

Vortmeyer AO et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Biallelic inactivation by somatic mutations of the MEN1 gene in sporadic parathyroid tumors.

Tanaka C et al.

Cancer Letters, 2002

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

Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1.

Sakurai A et al.

Endocrine Journal, 2000

Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13.

Dwight T et al.

Clinical Endocrinology, 2000

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.

Sato K et al.

Surgery, 2000

Screening for MEN1 mutations in patients with atypical endocrine neoplasia.

Dackiw AP et al.

Surgery, 1999

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

Alterations of the MEN1 gene in sporadic parathyroid tumors.

Farnebo F 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

A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1.

Kishi M et al.

Japanese Journal of Cancer Research : Gann, 1998

Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online.

Cote GJ et al.

Human Mutation, 1998

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Agarwal SK et al.

Human Mutation, 1998

Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

Sakurai A et al.

Journal of Human Genetics, 1998

Mutations of the MEN1 tumor suppressor gene in pituitary tumors.

Zhuang Z et al.

Cancer Research, 1997

Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system.

Toliat MR et al.

Lancet (london, England), 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

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

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

Debelenko LV et al.

Cancer Research, 1997

Menin immunoreactivity in secretory granules of human pancreatic islet cells.

Debelenko LV et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 0

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