Associated Papers
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.
Das K et al.
Scientific Reports, 2025
40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table2.xls › Sheet1
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5
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
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4
Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.
Bartolacci C et al.
Nature Communications, 2022
35882862 (PubMed )
Supplement: 41467_2022_31963_MOESM13_ESM.xlsx › Sheet1
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638
Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.
Wu J et al.
Molecular Genetics & Genomic Medicine, 2022
The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
Dong L et al.
Cancer Biology & Medicine, 2021
34570441 (PubMed )
Supplement: cbm-19-850-s001.pdf
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Cancers, 2020
32756499 (PubMed )
Supplement: cancers-12-02151-s001.pdf
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
Alenezi WM et al.
Genes, 2020
32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 2020
32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Germline_mutation
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 2020
32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › INDEL
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Koczkowska M et al.
Cancers, 2018
30441849 (PubMed )
Supplement: cancers-10-00442-s001.pdf
Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M et al.
Bmc Medical Genetics, 2018
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.
Liu X et al.
Cancer Medicine, 2017
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
28076423 (PubMed )
Supplement: pone.0167581.s001.xlsx › Sheet1
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf
Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
De Brakeleer S et al.
Clinical Genetics, 2016
New concepts on BARD1: Regulator of BRCA pathways and beyond.
Irminger-Finger I et al.
The International Journal of Biochemistry & Cell Biology, 2016
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
De Brakeleer S et al.
Human Mutation, 2010
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