The Clinical Spectrum of PTEN Mutations
L Yehia, E Keel, C Eng - Annual review of medicine, 2020 - annualreviews.org
PTEN is a tumor suppressor gene that classically dampens the PI3K/AKT/mTOR growth-
promoting signaling cascade. PTEN dysfunction causes dysregulation of this and other …
promoting signaling cascade. PTEN dysfunction causes dysregulation of this and other …
PTEN-opathies: from biological insights to evidence-based precision medicine
The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the
PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN …
PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN …
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
[HTML][HTML] Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen) …
Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …
given unique features of the mtDNA genome, including maternal inheritance, variant …
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
[HTML][HTML] Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Clinical interpretation of missense variants is challenging because the majority identified by
genetic testing are rare and their functional effects are unknown. Consequently, most …
genetic testing are rare and their functional effects are unknown. Consequently, most …
ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence …
Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge
of clinical sequence variant interpretation. The demand for high‐quality interpretation …
of clinical sequence variant interpretation. The demand for high‐quality interpretation …
Overview of specifications to the ACMG/AMP variant interpretation guidelines
SM Harrison, LG Biesecker… - Current protocols in …, 2019 - Wiley Online Library
The 2015 ACMG/AMP guidelines established a classification system for sequence variants;
however, the broad scope of these guidelines necessitates specification of evidence types …
however, the broad scope of these guidelines necessitates specification of evidence types …
Expanding ACMG variant classification guidelines into a general framework
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …