Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM4_ESM.xlsx › Sayfa1
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
40282418 (PubMed )
Supplement: genes-16-00458-s001.zip › genes-3555243-supplementary.xlsx › Hoja2
Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.
Tseng YH et al.
Cell Death Discovery, 2025
39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation
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_11
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Chrysafi P et al.
Cancers, 2023
Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.
Kim JW et al.
Cancer Research and Treatment, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
Zografos E et al.
Genes, 2022
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations
TP53 mutations determined by targeted NGS in breast cancer: a case-control study.
Andrikopoulou A et al.
Oncotarget, 2021
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
33692861 (PubMed )
Supplement: Supplementary_Data.pdf
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1
The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2021
Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.
McPherson MT et al.
Cancers, 2020
33339169 (PubMed )
Supplement: cancers-12-03794-s001.pdf
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Fanale D et al.
Cancers, 2020
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
Nanki Y et al.
Scientific Reports, 2020
32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1
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
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_OtherCG
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant.
Parachoniak CA et al.
Cold Spring Harbor Molecular Case Studies, 2017
28550065 (PubMed )
Supplement: supp_mcs.a000778_Supplemental_Table2.xlsx › Sheet1
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf
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
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