ArticleHuman mutation2021
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer.Genes · 2026Review
- Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.NPJ breast cancer · 2026Article
- A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer.BJC reports · 2026Article
- Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.Journal of translational medicine · 2025Article
- Homologous recombination deficiency among patients with germline or somatic non-BRCA1/2 homologous recombination repair gene variations.NPJ precision oncology · 2025Article
- Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.Familial cancer · 2025Article
- Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.BMC cancer · 2025Article
- Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.International journal of molecular sciences · 2025Article
- Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.NPJ genomic medicine · 2025Article
- Therapeutic potential ofToxicology research · 2025Article
- Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.International journal of molecular sciences · 2024Article
- Circulating Liquid Biopsy Biomarkers in Glioblastoma: Advances and Challenges.International journal of molecular sciences · 2024Review
- Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.Epigenomes · 2024Article
- Based on whole-exome sequencing to explore the rule of Herceptin and TKI resistance in breast cancer patients.BMC medical genomics · 2024Article
- Uncovering hidden genetic risk factors for breast and ovarian cancers in BRCA-negative women: a machine learning approach in the Saudi population.PeerJ. Computer science · 2024Article
- "I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer.Briefings in bioinformatics · 2023Review
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole-exome sequencing (WES) was performed in the germline DNA of 52 non-BRCA1/BRCA2/TP53 mutation carrier women at high-risk for hereditary breast and ovarian cancer (HBOC). All variants were classified using information from population and disease specific databases, in silico prediction tools and the American College of Medical Genetics and Genomics (ACMG) criteria. Loss of heterozygosity (LOH) of tumor samples and segregation analyses were performed whenever possible. The variants identified were investigated in a second, independent cohort of 17 BC cases. Pathogenic/Likely Pathogenic variants were identified in known cancer genes such as CHEK2, MUTYH, PMS2, and RAD51C. Rare and potentially pathogenic variants were identified in DNA repair genes (FAN1, POLQ, and RAD54L) and other cancer-related genes such as DROSHA and SLC34A2. Interestingly, the variant c.149T>G in the FAN1 gene was identified in two unrelated families, and exhibited LOH in the tumor tissue of one of them. In conclusion, this is the largest Brazilian WES study involving families at high-risk for HBOC which has brought novel insights into the role of potentially new genetic risk factors for hereditary breast and ovarian cancer.
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