Associated Papers
Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.
Matsuura M et al.
Bjc Reports, 2023
39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S5
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN
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
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
Toward Systems Pathology for PTEN Diagnostics.
Haddadi N et al.
Cold Spring Harbor Perspectives in Medicine, 2020
Therapeutic implications of germline genetic findings in cancer.
Thavaneswaran S et al.
Nature Reviews. Clinical Oncology, 2019
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
Rapamycin treatment for a child with germline PTEN mutation.
Marsh DJ et al.
Nature Clinical Practice. Oncology, 2008
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
Tekin M et al.
American Journal of Medical Genetics. Part A, 2006
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
Loffeld A et al.
The British Journal of Dermatology, 2006
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
Smith JM et al.
Journal of Medical Genetics, 2002
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