Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
Bu R et al.
International Journal of Molecular Sciences, 2026
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.
Elmetnawy W et al.
Scientific Reports, 2025
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
Ekram SN et al.
Discover Oncology, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
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
The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.
Makhetha M et al.
Journal of Genetic Counseling, 2024
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
Spatial Transcriptomics Suggests That Alterations Occur in the Preneoplastic Breast Microenvironment of BRCA1/2 Mutation Carriers.
Caputo A et al.
Molecular Cancer Research : Mcr, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.
Al-Jumaan M et al.
Genome Medicine, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
Alterations in the preneoplastic breast microenvironment of BRCA1/2 mutation carriers revealed by spatial transcriptomics.
Caputo A et al.
Biorxiv : the Preprint Server for Biology, 2023
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
Abdel-Razeq H et al.
Molecular Genetics & Genomic Medicine, 2023
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.
Nagy G et al.
Plos One, 2023
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
Olaya J et al.
Cureus, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
Elalaoui SC et al.
Breast Cancer Research and Treatment, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 2022
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
Van der Merwe NC et al.
Frontiers in Genetics, 2022
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.
Abreu RBV et al.
Frontiers in Pharmacology, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.
Abdel-Razeq H et al.
Scientific Reports, 2021
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Lertwilaiwittaya P et al.
Breast Cancer Research and Treatment, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019