Associated Papers
Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity.
Rossi MS et al.
Cureus, 2024
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
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
Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
Hendricks LAJ et al.
European Journal of Medical Genetics, 2022
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes
Lynch Syndrome in Thai Endometrial Cancer Patients.
Manchana T et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2021
Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.
Sun X et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
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
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