Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.S170fs
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PTEN

NM_000314.8:p.S170fs

Associated Papers

Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.

Kim M et al.

Pathology, Research and Practice, 2023

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Rahmatinejad Z et al.

Diagnostic Pathology, 2023

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

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.

Stegel V et al.

Cancers, 2022

35326583 (PubMed )
Supplement: cancers-14-01434-s001.zip › cancers-1614158-supplementary.pdf

Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-malignant course.

Martínez-Doménech A et al.

Dermatology Online Journal, 2019

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