Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R516delFs
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MEN1

NM_001370259.2:p.R516delFs

Associated Papers

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s006.xlsx › Sheet_1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10

Traits of Patients With Pituitary Tumors in Multiple Endocrine Neoplasia Type 1 and Comparing Different Mutation Status.

Lin KY et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

[Primary hyperparathyroidism in children].

Benina AR et al.

Problemy Endokrinologii, 2023

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

Lagarde A et al.

Endocrine Connections, 2022

Microsatellite Instability-High, Malignant Insulinoma With Brain Metastasis.

Starr J et al.

Cureus, 2021

A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.

Cho YY et al.

Medicine, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

[Multiple Endocrine Neoplasia].

Uchino S et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2019

Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

McCabe MJ et al.

Cold Spring Harbor Molecular Case Studies, 2019

Atypical pituitary adenoma with MEN1 somatic mutation associated with abnormalities of DNA mismatch repair genes; MLH1 germline mutation and MSH6 somatic mutation.

Uraki S et al.

Endocrine Journal, 2017

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

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Cuny T et al.

European Journal of Endocrinology, 2013

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 (MEN1): An update of 208 new germline variants reported in the last nine years.

Concolino P et al.

Cancer Genetics, 0

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