ArticleBMC medical genetics2008
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 41 citations in OpenAlex.
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- Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.European journal of human genetics : EJHG · 2019Article
- Advances in ligase chain reaction and ligation-based amplifications for genotyping assays: Detection and applications.Mutation research. Reviews in mutation research · 2017Review
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- Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.British journal of cancer · 2015Article
- Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.Human mutation · 2015Article
- Functional characterization of BRCA1 gene variants by mini-gene splicing assay.European journal of human genetics : EJHG · 2014Article
- BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.The oncologist · 2013Article
- Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.Breast cancer research and treatment · 2012Article
- Routine TP53 testing for breast cancer under age 30: ready for prime time?Familial cancer · 2012Article
- A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.BMC medical genetics · 2011Article
- A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.Familial cancer · 2011Article
- Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.Familial cancer · 2011Article
- Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.Familial cancer · 2010Article
- Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.Familial cancer · 2010Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibiting a ductal carcinoma at the age of 40.
methodsVariations were identified by denaturing high performance liquid chromatography (dHPLC) and sequencing of the BRCA1 and BRCA2 genes. The effect of the mutation on splicing was examined by exon trapping in COS-7 cells and by RT-PCR on RNA isolated from whole blood. The paternity was determined by single nucleotide polymorphism (SNP) microarray analysis. Parental origin of the de novo mutation was determined by establishing mutation-SNP haplotypes by variant specific PCR, while de novo and mosaic status was investigated by sequencing of DNA from leucocytes and carcinoma tissue.
resultsA novel BRCA2 variant in the splice donor site of exon 21 (nucleotide 8982+1 G-->A/c.8754+1 G-->A) was identified. Exon trapping showed that the mutation activates a cryptic splice site 46 base pairs 3' of exon 21, resulting in the inclusion of a premature stop codon and synthesis of a truncated BRCA2 protein. The aberrant splicing was verified by RT-PCR analysis on RNA isolated from whole blood of the affected patient. The mutation was not found in any of the patient's parents or in the mother's carcinoma, showing it is a de novo mutation. Variant specific PCR indicates that the mutation arose in the male germ-line.
conclusionWe conclude that the novel BRCA2 splice variant is a de novo mutation introduced in the male spermatozoa that can be classified as a disease causing mutation.
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