Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L23*
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PTEN

NM_000314.8:p.L23*

Associated Papers

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Pena-Couso L et al.

Orphanet Journal of Rare Diseases, 2022

35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf

Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants.

Shao J et al.

The Journal of Pathology. Clinical Research, 2021

Identification of the Prognostic Signatures of Glioma With Different PTEN Status.

Zhang P et al.

Frontiers in Oncology, 2021

34336645 (PubMed )
Supplement: DataSheet_2.zip › Supplementary_Table_2.xlsx › TCGA_

Exceptional Response to AKT Inhibition in Patients With Breast Cancer and Germline PTEN Mutations.

Kingston B et al.

Jco Precision Oncology, 2019

Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Yakubov E et al.

Oncoscience, 2016

27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf

First Polish Cowden syndrome patient with confirmed PTEN gene mutation.

Podralska M et al.

Archives of Medical Science : Ams, 2010

Germline PTEN mutations are rare and highly penetrant.

Rustad CF et al.

Hereditary Cancer in Clinical Practice, 2006

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Lynch ED et al.

American Journal of Human Genetics, 1997

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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."