Associated Papers
Population-based study of recurrent DNA damage response gene variants in breast cancer cases.
Tervasmäki A et al.
Breast Cancer Research and Treatment, 2025
40009290 (PubMed )
Supplement: 10549_2025_7634_MOESM1_ESM.pdf
Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.
Bernstein-Molho R et al.
Cancer, 2024
TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
Corrêa TS et al.
Genes, 2024
39062707 (PubMed )
Supplement: genes-15-00928-s001.zip › genes-2978195-supplementary.pdf
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 2024
38927659 (PubMed )
Supplement: genes-15-00724-s001.zip › genes-2990258-supplementary.pdf
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT.
Silvoniemi A et al.
Cancers, 2023
37568786 (PubMed )
Supplement: cancers-15-03970-s001.zip › cancers-2472979-supplementary.pdf
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
Yanus GA et al.
Familial Cancer, 2023
Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer?
Wang Y et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2022
Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
Pallonen TA et al.
Scientific Reports, 2022
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke J et al.
Journal of Medical Genetics, 2022
33273034 (PubMed )
Supplement: jmedgenet-2020-107353supp001.pdf
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA
The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
Mandelker D et al.
Jnci Cancer Spectrum, 2019
31360903 (PubMed )
Supplement: supplementary_data_pkz027.pdf
Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
Kryklyva V et al.
Cancer Biology & Therapy, 2019
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
de Jonge MM et al.
The Journal of Molecular Diagnostics : Jmd, 2018
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.s008.xlsx › S7_Table
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_20.Germline.Analysis.11052015.v2.xlsx › Sheet1
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
26023681 (PubMed )
Supplement: mmc1.pdf
Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.
Yang D et al.
Jama, 2011
Integrated genomic analyses of ovarian carcinoma.
Unknown Author
Nature, 2011
21720365 (PubMed )
Supplement: NIHMS313090-supplement-8.pdf
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