BRCA1 and BRCA2 Mutations in Spanish Breast Cancer Patients
Author Information
Author(s): Díez O, Osorio A, Robledo M, Barroso A, Domènech M, Cortés J, Albertos J, Sanz J, Brunet J, SanRoḿn J M, Alonso M C, Baiget M, Benítez J
Primary Institution: Servei de Genètica, Hospital de Sant Pau, Barcelona, Spain
Hypothesis
The study investigates the prevalence of specific BRCA1 and BRCA2 mutations in Spanish women with breast cancer.
Conclusion
The presence of the 185delAG mutation in two women suggests a common origin of this mutation in both Sephardic and Ashkenazi populations.
Supporting Evidence
- Two women with breast cancer had the 185delAG mutation.
- One of the women had Sephardic ancestors.
- The same haplotype of the mutation was reported in Ashkenazi populations.
Takeaway
The study looked at breast cancer mutations in Spanish women and found that some mutations are shared with Jewish populations.
Methodology
Screening for specific BRCA1 and BRCA2 mutations in breast cancer patients.
Participant Demographics
298 Spanish women with breast cancer.
Digital Object Identifier (DOI)
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