Associated Papers
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
39456541 (PubMed )
Supplement: cancers-16-03447-s001.zip › cancers-3211805-supplementary.pdf
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
Goebel EA et al.
Genes, 2022
36011309 (PubMed )
Supplement: genes-13-01398-s001.zip › genes-1797999-supplementary.xlsx › Variants_Table
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W et al.
Cancers, 2022
35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Bono M et al.
Esmo Open, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Yang X et al.
Journal of the National Cancer Institute, 2020
32107557 (PubMed )
Supplement: djaa030_supplementary_data.pdf
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM6_ESM.xlsx › Suppl._Data_4
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf
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
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
Weber-Lassalle K et al.
Human Mutation, 2018
RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.
Wolf C et al.
Nature Communications, 2016
27230542 (PubMed )
Supplement: ncomms11752-s1.pdf
Genetic testing for RAD51C mutations: in the clinic and community.
Sopik V et al.
Clinical Genetics, 2015
Germline mutations in RAD51C in Jewish high cancer risk families.
Kushnir A et al.
Breast Cancer Research and Treatment, 2012
A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.
Romero A et al.
Breast Cancer Research and Treatment, 2011
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Meindl A et al.
Nature Genetics, 2010
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