Associated Papers
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 2024
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
Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.
Muendlein A et al.
Scientific Reports, 2021
33762647 (PubMed )
Supplement: 41598_2021_86238_MOESM2_ESM.xlsx › Tabelle1
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S10_PTEN_A
A pan-cancer analysis of synonymous mutations.
Sharma Y et al.
Nature Communications, 2019
31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias.
Schick V et al.
Acta Neuropathologica, 2006
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
Kurose K et al.
Nature Genetics, 2002
PTEN/MMAC1 is infrequently mutated in pT2 and pT3 carcinomas of the prostate.
Dong JT et al.
Oncogene, 1998
MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines.
Teng DH et al.
Cancer Research, 1997
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.
Steck PA et al.
Nature Genetics, 1997
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