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Many BRCA1 and BRCA2 genes mutations are unique to Spain.
2004 FEB 5 - (NewsRx.com & NewsRx.net) -- Knowledge about the spectrum of BRCA1 and BRCA2 mutations will improve the detection strategy in countries with large Spanish populations, researchers say.
According to published research from Spain, "We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them men) with breast cancer for germline mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing.
"We identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 distinct mutations observed, 11 are novel and 12 have been reported only in Spanish families (41.5%). The prevalence of mutations in this set of families was 26.3%, but the percentage was higher in the families with breast and ovarian cancer (52.1%)," wrote O. Diez and colleagues, Hospital Santa Cruz & San Pablo, Genetics Service.
"The lowest proportion of mutations was found in the site-specific female breast cancer families (15.4%). Of the families with male breast cancer cases, 59.1% presented mutations in the BRCA2 gene. We found a higher frequency of ovarian cancer associated with mutations localized in the 5' end of the BRCA1 gene, but there was no association between the prevalence of this type of cancer and mutations situated in the ovarian cancer cluster region (OCCR) region of exon 11 of the BRCA2 gene," the researchers wrote.
"The mutations 187_188delAG, 330A > G, 5236G > A, 5242C > A, and 589_590del (numbered after ...
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Source: HighBeam Research, Many BRCA1 and BRCA2 genes mutations are unique to Spain.