Associated Papers
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 2025
40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
40403485 (PubMed )
Supplement: mmc2.xlsx › BRCA1_2_findings
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1
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
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf
Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node.
Xia Y et al.
Frontiers in Immunology, 2025
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S2
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S1_Patient_demographics.xlsx › Sheet1
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Chinese
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
36612302 (PubMed )
Supplement: cancers-15-00306-s001.zip › cancers-2084904-supplementary.pdf
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Han H et al.
International Journal of Molecular Sciences, 2022
36362213 (PubMed )
Supplement: ijms-23-13426-s001.zip › Table_S1_Sample_genomic_characteristics.xlsx › Sheet1
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s005.pdf
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B et al.
Human Mutation, 2022
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_TableS1.xlsx › Sheet_1
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
Bang YJ et al.
Cancer Research and Treatment, 2022
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021
34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S4
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
Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
George SHL et al.
Jama Network Open, 2021
33646313 (PubMed )
Supplement: jamanetwopen-e210307-s001.pdf
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table
Vulnerability to low-dose combination of irinotecan and niraparib in ATM-mutated colorectal cancer.
Vitiello PP et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2021
33407715 (PubMed )
Supplement: 13046_2020_1811_MOESM3_ESM.pdf
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
Ha HI et al.
Journal of Gynecologic Oncology, 2020
33078592 (PubMed )
Supplement: jgo-31-e83-s007.xls › jgo-31-e83-s007
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
32532514 (PubMed )
Supplement: mmc1.pdf
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
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