Associated Papers
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf
Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.
Lara Gutierrez A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
40188947 (PubMed )
Supplement: mmc1.xlsx › LDT
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.
Ruangapirom L et al.
Vaccines, 2022
36298462 (PubMed )
Supplement: vaccines-10-01597-s001.zip › vaccines-1858387-supplementary.pdf
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Turchiano A et al.
Cancers, 2022
Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
Camp SY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
Brovkina OI et al.
Frontiers in Oncology, 2018
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13
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