ArticleFamilial cancer2011
A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.
Article in Familial cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Case report: a rare BRCA1 de novo variant in a female with breast cancer.Hereditary cancer in clinical practice · 2026Article
- Novel De NovoInternational journal of molecular sciences · 2025Article
- A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.Familial cancer · 2024Article
- A de Novo BRCA1 Pathogenic Variant in a 29-Year-Old Woman with Triple-Negative Breast Cancer.Breast care (Basel, Switzerland) · 2023Article
- A New de novoThe application of clinical genetics · 2023Article
- The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism forCancers · 2021Article
- A NovelBreast cancer : basic and clinical research · 2020Article
- Functional analysis of BRCT missense mutations inOncology letters · 2017Article
- A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.Clinical case reports · 2017Article
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- Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.BMC cancer · 2016Article
- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.Medical journal of the Islamic Republic of Iran · 2016Review
- Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.British journal of cancer · 2015Article
- Hereditary breast cancer in the Han Chinese population.Journal of epidemiology · 2013Review
- Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.Breast cancer research and treatment · 2012Article
- Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.International journal of oncology · 2012Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression.
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