Associated Papers
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
39334433 (PubMed )
Supplement: 13053_2024_292_MOESM1_ESM.pdf
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin I et al.
Diagnostics (basel, Switzerland), 2022
36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL
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 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
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Nikitin AG et al.
Frontiers in Oncology, 2020
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.
Nomura S et al.
Japanese Journal of Clinical Oncology, 2015
Select a paper to view details