Published in:
01-10-2009 | Letter to the Editor
Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
Authors:
Diana Torres, Muhammad U. Rashid, Antje Seidel-Renkert, Jeffrey N. Weitzel, Ignacio Briceno, Ute Hamann, Colombian Breast Cancer Study Group (COLBCS)
Published in:
Breast Cancer Research and Treatment
|
Issue 3/2009
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Excerpt
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]. …
