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

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dc.contributor.authorTapia, Teresa
dc.contributor.authorSanchez, Alejandro
dc.contributor.authorVallejos, Maricarmen
dc.contributor.authorAlvarez, Carolina
dc.contributor.authorMoraga, Mauricio
dc.contributor.authorSmalley, Susan
dc.contributor.authorCamus, Mauricio
dc.contributor.authorAlvarez, Manuel
dc.contributor.authorCarvallo, Pilar
dc.date.accessioned2025-01-21T01:05:13Z
dc.date.available2025-01-21T01:05:13Z
dc.date.issued2008
dc.description.abstractBesides 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.
dc.fuente.origenWOS
dc.identifier.doi10.1007/s10549-007-9544-5
dc.identifier.eissn1573-7217
dc.identifier.issn0167-6806
dc.identifier.urihttps://doi.org/10.1007/s10549-007-9544-5
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/95861
dc.identifier.wosidWOS:000251640900013
dc.issue.numero2
dc.language.isoen
dc.pagina.final288
dc.pagina.inicio281
dc.revistaBreast cancer research and treatment
dc.rightsacceso restringido
dc.subjectATM gene
dc.subjectassociation analysis
dc.subjectallelic variants
dc.subjectgenetics of breast cancer
dc.subjectethnic influences
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
dc.typeartículo
dc.volumen107
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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