Associated Papers
Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.
Liu Y et al.
The Journal of Pathology, 2026
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.
Kim YG et al.
European Journal of Human Genetics : Ejhg, 2025
40702147 (PubMed )
Supplement: 41431_2025_1911_MOESM2_ESM.xlsx › Supplementary_table
Germline Mutations in Renal Neoplasms and Their Clinicopathological Correlations.
Chen M et al.
International Journal of Surgical Pathology, 2025
The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma.
Bai J et al.
Aging, 2024
Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
Lee ES et al.
Advances in Experimental Medicine and Biology, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
Shin HC et al.
Cancer Research and Treatment, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.
Wu J et al.
Cancer, 2019
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28125078 (PubMed )
Supplement: NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
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