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Breast Cancer Research and Treatment
Published in: Breast Cancer Research and Treatment 2/2008

01-01-2008 | Epidemiology

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

Authors: Teresa Tapia, Alejandro Sanchez, Maricarmen Vallejos, Carolina Alvarez, Mauricio Moraga, Susan Smalley, Mauricio Camus, Manuel Alvarez, Pilar Carvallo

Published in: Breast Cancer Research and Treatment | Issue 2/2008

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Abstract

Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c.5557G>A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population.
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Metadata
Title
ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
Authors
Teresa Tapia
Alejandro Sanchez
Maricarmen Vallejos
Carolina Alvarez
Mauricio Moraga
Susan Smalley
Mauricio Camus
Manuel Alvarez
Pilar Carvallo
Publication date
01-01-2008
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 2/2008
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-007-9544-5

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