ArticleBritish journal of cancer2015
Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.
Article in British journal of cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Mutations mark cell lineages and sectors in flowers of a woody angiosperm.PLoS genetics · 2025Article
- Constitutional Epimutations: From Rare Events Toward Major Cancer Risk Factors?JCO precision oncology · 2025Review
- A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.Familial cancer · 2024Article
- Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism inGenes · 2023Article
- Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.JAMA oncology · 2022Article
- Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.Hereditary cancer in clinical practice · 2022Article
- Article
- Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting.Familial cancer · 2021Article
- Ovarian cancer risk assessment in the era of next-generation sequencing.Annals of translational medicine · 2020Review
- Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.Familial cancer · 2020Article
- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.High-throughput · 2020Review
- Constitutional Mosaic Epimutations - a hidden cause of cancer?Cell stress · 2019Review
- Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.Frontiers in oncology · 2019Article
- Genetic Testing in Pediatric Epilepsy.Current neurology and neuroscience reports · 2017Review
- A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.Clinical case reports · 2017Article
- The fate of BRCA1-related germline mutations in triple-negative breast tumors.American journal of cancer research · 2017Article
- Article
- Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine.Oncotarget · 2016Review
- Unrevealed mosaicism in the next-generation sequencing era.Molecular genetics and genomics : MGG · 2016Review
- Somatic mosaicism: on the road to cancer.Nature reviews. Cancer · 2016Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic BRCA1 mutations are usually inherited. Constitutional low-level BRCA1 mosaicism has never been reported.
methodsNext-generation sequencing (NGS) of cancer gene panel of germline and tumour DNA in a patient with early onset, triple-negative breast cancer.
resultsConstitutional de novo mosaicism (5%) for a pathogenic (c.1953dupG; p.Lys652Glufs*21) BRCA1mutation was detected in leukocytes, buccal tissue and normal breast tissue DNA, with ∼50% mutation in tumorous breast tissue.
conclusionThis is the first reported case of low-level, multiple tissue, constitutional mosaicism in BRCA1, and highlights the need to consider deep sequencing in affected individuals clinically suspected of having cancer predisposition whose tumours display a BRCA mutation.
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