Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K267insFs
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PTEN

NM_000314.8:p.K267insFs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors.

Cui Q et al.

Journal of Cancer Research and Clinical Oncology, 2025

40369172 (PubMed )
Supplement: 432_2025_6209_MOESM5_ESM.xlsx › Sheet1

Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.

Reijnen C et al.

Cancer Medicine, 2023

37081760 (PubMed )
Supplement: CAM4-12-12365-s001.pdf

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information

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

Innella G et al.

Frontiers in Medicine, 2021

Immune checkpoint blockade resistance-related B2M hotspot mutations in microsatellite-unstable colorectal carcinoma.

Yeon Yeon S et al.

Pathology, Research and Practice, 2019

Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.

Østrup O et al.

Frontiers in Pediatrics, 2018

29732366 (PubMed )
Supplement: Table2.PDF

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.

Danielsen SA et al.

Human Mutation, 2008

Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.

Harada N et al.

Journal of Gastroenterology, 2003

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ et al.

Human Molecular Genetics, 1999

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ et al.

Human Molecular Genetics, 1998

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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."