ArticleCancer discovery2013
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Article in Cancer discovery, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
85 citing papers in PubMed, 147 citations in OpenAlex.
- Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Reproductive medicine care in BRCA mutation carriers: an opportunity for early intervention.F&S reports · 2026Article
- Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.EMBO molecular medicine · 2026Article
- Case Report: BiallelicFrontiers in oncology · 2025Article
- Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient.Case reports in neurological medicine · 2025Article
- Biallelic GermlineInternational journal of molecular sciences · 2024Article
- Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.Cancer medicine · 2024Article
- E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.The Biochemical journal · 2024Review
- Article
- Evaluating homologous recombination activity in tissues to predict the risk of hereditary breast and ovarian cancer and olaparib sensitivity.Scientific reports · 2024Article
- Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.Breast cancer research : BCR · 2024Article
- Brca1 Mouse Models: Functional Insights and Therapeutic Opportunities.Journal of molecular biology · 2024Review
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.BMC cancer · 2023Article
- DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.PLoS genetics · 2023Article
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
- DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus.bioRxiv : the preprint server for biology · 2023Article
- Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.Clinical genetics · 2023Article
- The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelicFrontiers in oncology · 2023Review
- Interplay between the DNA Damage Response and Immunotherapy Response in Cancer.International journal of molecular sciences · 2022Review
25 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
unlabelledBRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T>C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. SIGNIFICANCE: Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.