Associated Papers
Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.
Aldera AP et al.
Journal of Clinical Pathology, 2025
Advancing Precision Oncology: Whole-Exome Sequencing in Endometrial Cancer Liquid-Based Cytology.
Takamatsu R et al.
Archives of Pathology & Laboratory Medicine, 2025
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Shao D et al.
Cancer Science, 2020
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.
Lindsay H et al.
Cold Spring Harbor Molecular Case Studies, 2019
Immunogenomic profiles associated with response to neoadjuvant chemoradiotherapy in patients with rectal cancer.
Akiyoshi T et al.
The British Journal of Surgery, 2019
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