Associated Papers
Cowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.
Albrecht MEM et al.
Indian Journal of Thoracic and Cardiovascular Surgery, 2026
A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.
Grewal N et al.
Indian Journal of Thoracic and Cardiovascular Surgery, 2026
Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.
Plitt G et al.
Surgery, 2026
The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.
Plitt G et al.
Cancer Research, 2024
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
Andersen LVB et al.
Breast Cancer Research : Bcr, 2023
37316882 (PubMed )
Supplement: 13058_2023_1655_MOESM9_ESM.xlsx › Substitutions_and_indels
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
Prevalence of APC and PTEN Alterations in Urachal Cancer.
Nagy N et al.
Pathology Oncology Research : Por, 2020
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
Tate G et al.
Cancer Genetics and Cytogenetics, 2008
Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.
Sawada T et al.
American Journal of Medical Genetics. Part A, 2004
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
Sawada T et al.
Japanese Journal of Cancer Research : Gann, 2000
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