Open Access Highly Accessed Research article

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

Sandra Filippini1, Ana Blanco2, Ana Fernández-Marmiesse2, Vanesa Álvarez-Iglesias1, Clara Ruíz-Ponte2, Ángel Carracedo12 and Ana Vega2*

Author Affiliations

1 Unidade de Xenética, Instituto de Medicina Legal & Grupo de Medicina Xenómica, Facultad de Medicina, Santiago de Compostela, Galicia, Spain

2 Unidad de Medicina Molecular, Fundación Pública Galega de Medicina Xenómica_SERGAS, Hospital Clínico de Santiago de Compostela, Galicia, Spain

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BMC Medical Genetics 2007, 8:40  doi:10.1186/1471-2350-8-40

Published: 29 June 2007



It is estimated that 5–10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expensive essentially because their length. Nevertheless, the presence of recurrent and founder mutations allows a pre-screening for the identification of the most frequent mutations found in each geographical region. In Spain, five mutations in BRCA1 and other five in BRCA2 account for approximately 50% of the mutations detected in Spanish families.


We have developed a novel PCR multiplex SNaPshot reaction that targets all ten recurrent and founder mutations identified in BRCA1 and BRCA2 in Spain to date.


The SNaPshot reaction was performed on samples previously analyzed by direct sequencing and all mutations were concordant. This strategy permits the analysis of approximately 50% of all mutations observed to be responsible for breast/ovarian cancer in Spanish families using a single reaction per patient sample.


The SNaPshot assay developed is sensitive, rapid, with minimum cost per sample and additionally can be automated for high-throughput genotyping. The SNaPshot assay outlined here is not only useful for analysis of Spanish breast/ovarian cancer families, but also e.g. for populations with Spanish ancestry, such as those in Latin America.