This is a preview of subscription content, log in via an institution to check access.
References
Machado P, Vaz F (2008) Caution should be taken in the methodology used to confirm c.156_157insAlu BRCA2 mutation. Breast Cancer Res Treat (Epub ahead of print Jul 17, 2008). doi:10.1007/s10549-008-0124-0
Peixoto A, Santos C, Rocha P et al (2008) The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat (Epub ahead of print Mar 25, 2008). doi:10.1007/s10549-008-9978-4
Teugels E, De Brakeleer S, Goelen G (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 26:284. doi:10.1002/humu.9366
Machado PM, Brandao RD, Cavaco BM et al (2007) Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027–2034. doi:10.1200/JCO.2006.06.9443
Díez O, Osorio A, Durán M et al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301–312. doi:10.1002/humu.10260
van der Hout AH, van den Ouweland AM, van der Luijt RB et al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27:654–666. doi:10.1002/humu.20340
Human Genome Variation Society (HGVS). http://www.hgvs.org/
Nordling M, Karlsson P, Wahlstrom J et al (1998) A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 58:1372–1375
Zou J, Hirose Y, Siddique H et al (1999) Structure and expression of variant BRCA2a lacking the transactivation domain. Oncol Rep 6:437–440
Bonnet C, Krieger S, Vezain M et al (2008) Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 45:438–446. doi:10.1136/jmg.2007.056895
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Peixoto, A., Santos, C., Rocha, P. et al. Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu. Breast Cancer Res Treat 117, 215–217 (2009). https://doi.org/10.1007/s10549-008-0214-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10549-008-0214-z