Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I85fs
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MEN1

NM_001370259.2:p.I85fs

Associated Papers

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.

Jesus TT et al.

Npj Precision Oncology, 2025

41350422 (PubMed )
Supplement: 41698_2025_1210_MOESM1_ESM.pdf

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM5_ESM.xlsx › stable9

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

van Leeuwaarde RS et al.

Familial Cancer, 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

Novel MEN1-associated retroperitoneal pleomorphic liposarcoma.

McNicoll CF et al.

Rare Tumors, 2024

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

Jacquart A et al.

Clinical Genetics, 2023

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

Kosugi R et al.

Journal of the Endocrine Society, 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

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

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

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Lawrence B et al.

Npj Genomic Medicine, 2018

30062048 (PubMed )
Supplement: 41525_2018_58_MOESM2_ESM.xlsx › Table_S5

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

Oncocytic subtype of well differentiated neuroendocrine tumor: clinicopathologic and molecular associations of a cohort diagnosed on fine needle aspiration (FNA).

Hsiao WY et al.

Journal of the American Society of Cytopathology, 0

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