Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E314fs
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PTEN

NM_000314.8:p.E314fs

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

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Villy MC et al.

Journal of the National Cancer Institute, 2024

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

35460607 (PubMed )
Supplement: mmc3.pdf

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

33828082 (PubMed )
Supplement: 41419_2021_3657_MOESM15_ESM.pdf

Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules.

Ye M et al.

Journal of Thoracic Disease, 2018

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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."