Associated Papers
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53
Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.
Tam B et al.
Briefings in Bioinformatics, 2024
39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.
Berko ER et al.
Nature Communications, 2023
37147298 (PubMed )
Supplement: 41467_2023_38195_MOESM3_ESM.xlsx › Figs._1-4____Suppl._Figs._1_3_4
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf
Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.
Tipirisetti NR et al.
Plos One, 2014
Mitochondrial displacement loop alterations are associated with endometriosis.
Govatati S et al.
Fertility and Sterility, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer, independent of TP53 mutation.
Kuo SJ et al.
Cancer Genetics and Cytogenetics, 2010
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