%0 Journal Article
%A Torres, Diana
%A Rashid, Muhammad U.
%A Seidel Renkert, Antje
%A Weitzel, Jeffrey N.
%A Briceño Balcázar, Ignacio
%A Hamann, Ute
%8 2009-03-31
%U http://hdl.handle.net/10818/41123
%X The frequency and spectrum of germ line mutations in the
high-penetrance breast cancer susceptibility genes BRCA1
and BRCA2 shows considerable variation by ethnic group.
Most genetic epidemiological studies of the BRCA genes
have been performed among Caucasian populations [1],
with the exception of a few studies involving other ethnic
groups, such as Hispanics [2–4], Asians [5, 6], and African
Americans [7–9]. In most of these studies only the frequencies of sequence detectable BRCA mutations were
reported and large genomic rearrangements including
deletions and insertions of one or more exons, which
account for 6–15% of all deleterious mutations in these
genes have infrequently been considered [10–12].
Most BRCA mutations are unique; however, few recurrent mutations with founder effects have been found in
European, Hispanic, American and Asian populations [13].
In a recent study on Hispanic high-risk breast/ovarian
cancer families of mainly Mexican descent from South
California, Weitzel and colleagues reported the identification of a novel deletion of BRCA1 exons 9 through 12 using
multiplex quantitative differential polymerase chain reaction (PCR) analysis. The deletion was detected in 3.8% of
families negative for sequence detectable BRCA mutations
[14]. The large genomic rearrangement mutation is considered deleterious as it results in loss of critical functional
domains as well as premature truncation of the BRCA1
protein. Given the relatively high prevalence of the deletion
in this cohort, the authors suggest to include the screening
for this mutation in the genetic testing strategy in Hispanic
women without sequence detectable BRCA mutations.
%I Breast Cancer Res Treat
%K BRCA1
%K Genomic rearrangements
%K Exon 9–12 deletion
%K Ethnic groups
%T Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
%R 10.1007/s10549-009-0383-4
%~ Intellectum