Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V85Splc
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PTEN

NM_000314.8:p.V85Splc

Associated Papers

Individualized management strategies for advanced non-small cell lung cancer with EGFR exon 19 deletion and L861Q compound mutations based on circulating tumor DNA monitoring: A case report.

Zhu X et al.

Oncology Letters, 2026

41509005 (PubMed )
Supplement: Supplementary_Data2.pdf

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.

Hartsough E et al.

American Journal of Clinical Pathology, 2024

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Evans DG et al.

Journal of Medical Genetics, 2022

33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.

Innella G et al.

Frontiers in Medicine, 2021

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

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Cowden syndrome and pituitary tumours.

Srichomkwun P et al.

Qjm : Monthly Journal of the Association of Physicians, 2018

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

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

Yakubov E et al.

Oncoscience, 2016

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

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B et al.

Gastroenterology, 2010

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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."