Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.P133T
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CDKN1B

NM_004064.5:p.P133T

Associated Papers

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

Bencivenga D et al.

Cells, 2025

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

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

Viotto D et al.

The Journal of Pathology, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

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

Cusan M et al.

Frontiers in Endocrinology, 2018

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R et al.

Endocrine-related Cancer, 2017

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

Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.

Borsari S et al.

Endocrine, 2017

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

Buzzola R et al.

Cardiorenal Medicine, 2016

Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.

Bugalho MJ et al.

Bmj Case Reports, 2016

The unpredictable consequences of CDKN1B/p27Kip1 mutations in cancer.

Borriello A et al.

Cell Cycle (georgetown, Tex.), 2015

MENX and MEN4.

Pellegata NS

Clinics (sao Paulo, Brazil), 2012

Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas.

Costa-Guda J et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."