Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
| Autor: | M Rabideau, Eitan Friedman, A Dvir, Y Kaplan, K Nykamp, T Ekstein, J Sorenson, L Soussan-Gutman, Noa Efrat, S Topper, M Powers |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Cancer Research Mutation Missense Breast Neoplasms Gene mutation Biology Bioinformatics Polymorphism Single Nucleotide Deep sequencing Germline deep sequencing Breast cancer Fatal Outcome BRCA1 germline mutations medicine Missense mutation Humans skin and connective tissue diseases Cancer predisposition BRCA1 Protein Mosaicism BRCA mutation Genetics and Genomics medicine.disease Oncology breast cancer predisposition Cancer research Cancer gene Female constitutional mosaicism |
| Zdroj: | British Journal of Cancer |
| ISSN: | 1532-1827 0007-0920 |
| Popis: | Background: Pathogenic BRCA1 mutations are usually inherited. Constitutional low-level BRCA1 mosaicism has never been reported. Methods: Next-generation sequencing (NGS) of cancer gene panel of germline and tumour DNA in a patient with early onset, triple-negative breast cancer. Results: Constitutional 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. Conclusion: This 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. |
| Databáze: | OpenAIRE |
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