Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E73*
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PTEN

NM_000314.8:p.E73*

Associated Papers

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Farshid G et al.

Pathology, 2025

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Farshid G et al.

Pathology, 2025

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.

Plitt G et al.

Cancer Research, 2024

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

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma.

Wintachai P et al.

Diagnostics (basel, Switzerland), 2021

34070951 (PubMed )
Supplement: diagnostics-11-00999-s001.zip › TableS4.xlsx › table_S4

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Thompson ER et al.

Plos Genetics, 2012

Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.

Köpp A et al.

Neuro-oncology Advances, 0

41664825 (PubMed )
Supplement: vdaf270_supplementary_data.zip › Table_S2.xlsx › Variants_Blood_and_CSF
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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."