Skip to main content
Top
Literature
1.
go back to reference Brandão RD, van Roozendaal K, Tserpelis D, García EG, Blok MJ (2011) Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 129(3):971–982. doi:10.1007/s10549-011-1599-7 PubMedCrossRef Brandão RD, van Roozendaal K, Tserpelis D, García EG, Blok MJ (2011) Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 129(3):971–982. doi:10.​1007/​s10549-011-1599-7 PubMedCrossRef
2.
go back to reference Burn TC, Connors TD, Klinger KW, Landes GM (1995) Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. Gene 161(2):183–187PubMedCrossRef Burn TC, Connors TD, Klinger KW, Landes GM (1995) Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. Gene 161(2):183–187PubMedCrossRef
4.
go back to reference Whiley P, Pettigrew C, Brewster B, Walker L, Investigators k, Spurdle A, Brown M (2010) Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Med Genet 11(1):80. doi:10.1186/1471-2350-11-80 PubMedCrossRef Whiley P, Pettigrew C, Brewster B, Walker L, Investigators k, Spurdle A, Brown M (2010) Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Med Genet 11(1):80. doi:10.​1186/​1471-2350-11-80 PubMedCrossRef
5.
go back to reference Hansen T, Steffensen A, Jønson L, Andersen M, Ejlertsen B, Nielsen F (2010) The silent mutation nucleotide 744 G→A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Res Treat 119(3):547–550. doi:10.1007/s10549-009-0359-4 PubMedCrossRef Hansen T, Steffensen A, Jønson L, Andersen M, Ejlertsen B, Nielsen F (2010) The silent mutation nucleotide 744 G→A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Res Treat 119(3):547–550. doi:10.​1007/​s10549-009-0359-4 PubMedCrossRef
Metadata
Title
BRCA1 c.4987-3C>G is a pathogenic mutation
Authors
Rita D. Brandão
Kees E. P. van Roozendaal
Demis Tserpelis
Beppy Caanen
Encarna Gómez García
Marinus J. Blok
Publication date
01-01-2012
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 2/2012
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-011-1878-3

Other articles of this Issue 2/2012

Breast Cancer Research and Treatment 2/2012 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine