Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients

O Díez; A Osorio; M Robledo; A Barroso; M Domènech; J Cortés; J Albertos; J Sanz; J Brunet; J M SanRomán; M C Alonso; M Baiget; J Benítez

doi:10.1038/sj.bjc.6690208

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients

Br J Cancer. 1999 Mar;79(7-8):1302-3. doi: 10.1038/sj.bjc.6690208.

Authors

O Díez¹, A Osorio, M Robledo, A Barroso, M Domènech, J Cortés, J Albertos, J Sanz, J Brunet, J M SanRomán, M C Alonso, M Baiget, J Benítez

Affiliation

¹ Servei de Genètica, Hospital de Sant Pau, Barcelona, Spain.

Abstract

We screened the 185delAG and 5382insC (BRCA1) and the 6174delT (BRCA2) mutation in 298 Spanish women with breast cancer. Two women (one with Sephardic ancestors) presented the 185delAG mutation and the same haplotype reported in Ashkenazim with this mutation. This suggests a common origin of the 185delAG in both Sephardic and Ashkenazi populations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
BRCA2 Protein
Breast Neoplasms / ethnology
Breast Neoplasms / genetics*
Female
Genes, BRCA1 / genetics*
Genetic Markers
Haplotypes
Humans
Jews*
Microsatellite Repeats / genetics
Middle Aged
Mutation
Neoplasm Proteins / genetics*
Spain / ethnology
Transcription Factors / genetics*

Substances

BRCA2 Protein
Genetic Markers
Neoplasm Proteins
Transcription Factors