ArticleClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico2015
Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
Article in Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.High-throughput · 2020Review
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9 authors at 2 institutions in 1 country.
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Abstract
purposeTo analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology.
methodsA population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed for germline mutations in BRCA1 and BRCA2 genes. The methodology relies on a 5 multiplex PCR assay coupled to NGS.
resultsTen pathogenic mutations (four in BRCA1 and six in BRCA2 gene) were identified in a Spanish population. The deletion c.1792delA, in exon 10, and the duplication c.5869dupA, in exon 11 of BRCA2 gene were not previously reported and should be considered as pathogenic due to its frameshift nature.
conclusionTwo novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS.
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