The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts

Breast Cancer Research and Treatment
Sara Gutiérrez-EnríquezOrland Díez

Abstract

The majority of BRCA1 and BRCA2 deleterious mutations and variants of unknown significance have been identified in genomic DNA and their effects at the mRNA level have not been reported. Our aim was to ascertain the pathological effect of the BRCA1 IVS6-1G>A (c. 302-1G>A) and the BRCA2 IVS15+1G>A (c. 7617+1G>A) variants detected in Spanish breast/ovarian cancer families. Sequencing of cDNA from the BRCA1 IVS6-1G>A allele revealed an inappropriate splicing of exon 7. The analysis of the BRCA2 IVS15+1G>A allele showed the skipping of exon 15. Both alterations predicted the appearance of premature stop codons. Our findings highlight the importance of studying mutations at DNA and RNA levels in order to clarify the effect of the suspected mutation and to provide adequate counseling for breast/ovarian cancer families.

References

Feb 24, 2001·Journal of Human Genetics·M T PyneT Scholl
Jun 29, 2001·Cancer Genetics and Cytogenetics·K Laskie OstrowA S Whittemore
Oct 3, 2006·Cancer Genetics and Cytogenetics·Fabrizia BonattiMaria Adelaide Caligo

❮ Previous
Next ❯

Citations

Feb 6, 2014·Molecular Genetics & Genomic Medicine·Roberta SpinelliCarlo Gambacorti-Passerini
Apr 28, 2011·Human Mutation·Eliseos J MucakiPeter K Rogan
Sep 26, 2017·Molecular Genetics & Genomic Medicine·Jose BulejeRicardo Fujita

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: Chemo-Resistance

Some cancers are difficult to treat and aggressive including the "triple-negative" breast cancer. This type of cancer is chemoresistant even before chemotherapy begins. Here are the latest discoveries chemo-resistance in breast cancer.

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.