Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.I119T
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CDKN1B

NM_004064.5:p.I119T

Associated Papers

Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

p27Kip1 and Tumors: Characterization of CDKN1B Variants Identified in MEN4 and Breast Cancer.

Bencivenga D et al.

Cells, 2025

39936980 (PubMed )
Supplement: cells-14-00188-s001.zip › cells-3341448-supplementary.docx

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.

Lanzaro F et al.

Journal of Clinical Medicine, 2024

Preclinical evaluation of CDK4 phosphorylation predicts high sensitivity of pleural mesotheliomas to CDK4/6 inhibition.

Paternot S et al.

Molecular Oncology, 2024

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Mazarico-Altisent I et al.

Journal of Endocrinological Investigation, 2023

36334246 (PubMed )
Supplement: 40618_2022_1948_MOESM1_ESM.xlsx › Supplementary_material

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Vanni I et al.

International Journal of Molecular Sciences, 2023

36901733 (PubMed )
Supplement: ijms-24-04302-s001.zip › Supplementary_data._xls.xlsx › Foglio1

Multiple endocrine neoplasia type 4: a new member of the MEN family.

Singeisen H et al.

Endocrine Connections, 2023

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Lavezzi E et al.

Frontiers in Endocrinology, 2022

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I et al.

European Journal of Endocrinology, 2021

CDKN1B mutation and copy number variation are associated with tumor aggressiveness in luminal breast cancer.

Viotto D et al.

The Journal of Pathology, 2021

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.

Chasseloup F et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

Frederiksen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.

Ruiz-Heredia Y et al.

Haematologica, 2018

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.

Cusan M et al.

Frontiers in Endocrinology, 2018

p27Kip1 and human cancers: A reappraisal of a still enigmatic protein.

Bencivenga D et al.

Cancer Letters, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation.

Buzzola R et al.

Cardiorenal Medicine, 2016

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

Tichomirowa MA et al.

Endocrine-related Cancer, 2012

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

Ojeda D et al.

Fertility and Sterility, 2011

A polymorphism in the CDKN1B gene is associated with increased risk of hereditary prostate cancer.

Chang BL et al.

Cancer Research, 2004

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."