Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel
Localized Endometrial Proliferations of Pregnancy are Clonal Glandular Outgrowths Characterized by PTEN Loss and PIK3CA Pathogenic Variants.
Wepy C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.
Davis AA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
36693175 (PubMed )
Supplement: ccr-22-2177_supplementary_data_s1_suppds1.xlsx › Variants
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6
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
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.
Innella G et al.
Frontiers in Medicine, 2021
Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.
Olbryt M et al.
Targeted Oncology, 2020
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels
Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.
Lim SM et al.
Oncotarget, 2016
26859683 (PubMed )
Supplement: oncotarget-07-10547-s002.pdf
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.
Kurek KC et al.
The American Journal of Surgical Pathology, 2012
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999
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