Associated Papers
Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.
Altieri B et al.
Esmo Open, 2026
Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.
Shin K et al.
Journal of Clinical Medicine, 2025
41156180 (PubMed )
Supplement: jcm-14-07310-s001.zip › jcm-3796461-supplementary.pdf
Widening the spectrum of players affected by genetic changes in Wilms tumor relapse.
Ciceri S et al.
Iscience, 2024
39262773 (PubMed )
Supplement: mmc1.xlsx › per_paper
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Villy MC et al.
Journal of the National Cancer Institute, 2024
Mutational Signature Changes in Patients With Metastatic Squamous Cell Carcinoma of the Anal Canal.
LaPelusa M et al.
The Oncologist, 2024
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Schwartz A et al.
Frontiers in Oncology, 2022
Incidence of germline variants in Lynch syndrome-related genes among Japanese endometrial cancer patients aged 40 years or younger.
Makabe T et al.
International Journal of Clinical Oncology, 2021
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › PMS2
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
Terashima T et al.
Oncotarget, 2019
31666926 (PubMed )
Supplement: oncotarget-10-5949-s002.xlsx › Table_S3
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
29212164 (PubMed )
Supplement: oncotarget-08-93450-s002.xlsx › Sup.Table1-All_rare_variants
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