Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.H61L
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PTEN

NM_000314.8:p.H61L

Associated Papers

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

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2022

Molecular Characterization, Via Next-Generation Sequencing, of Refractory or Resistant Invasive Breast Carcinoma.

Pose Lapausa P et al.

Cureus, 2021

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Singhi AD et al.

Gut, 2018

28970292 (PubMed )
Supplement: gutjnl-2016-313586supp002.pdf

KRAS, NRAS and BRAF mutations detected by next generation sequencing, and differential clinical outcome in metastatic colorectal cancer (MCRC) patients treated with first line FIr-B/FOx adding bevacizumab (BEV) to triplet chemotherapy.

Bruera G et al.

Oncotarget, 2018

Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.

Guo F et al.

Scientific Reports, 2018

Variant call concordance between two laboratory-developed, solid tumor targeted genomic profiling assays using distinct workflows and sequencing instruments.

Hampel KJ et al.

Experimental and Molecular Pathology, 2017

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

High-resolution melting analysis as a sensitive prescreening diagnostic tool to detect KRAS , BRAF , PIK3CA , and AKT1 mutations in formalin-fixed, paraffin-embedded tissues.

Ney JT et al.

Archives of Pathology & Laboratory Medicine, 2012

Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.

Lovly CM et al.

Plos One, 2012

Analysis of PTEN mutations and deletions in B-cell non-Hodgkin's lymphomas.

Butler MP et al.

Genes, Chromosomes & Cancer, 1999

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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."