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Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population

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dc.contributor.author Elematore, Isabel
dc.contributor.author Gonzalez-Hormazabal, Patricio
dc.contributor.author Reyes, José
dc.contributor.author Blanco, Rafael
dc.contributor.author Bravo, Teresa
dc.contributor.author Peralta, Octavio
dc.contributor.author Gomez, Fernando
dc.contributor.author Waugh, Enrique
dc.contributor.author Margarit, Sonia
dc.contributor.author Ibañez, Gladys
dc.contributor.author Romero, Carmen
dc.contributor.author Pakomio, Janara
dc.contributor.author Roizen, Gigia
dc.contributor.author Gabriella, Di Capua
dc.contributor.author Jara, Lilian
dc.date.accessioned 2017-03-13T15:25:28Z
dc.date.available 2017-03-13T15:25:28Z
dc.date.issued 2014
dc.identifier.citation Mol Biol Rep. 2014 Jun;41(6)p:3715-3722 es_CL
dc.identifier.uri http://dx.doi.org/10.1007/s11033-014-3236-0 es_CL
dc.identifier.uri http://hdl.handle.net/11447/1015
dc.description Centro de Genética y Genómica es_CL
dc.description.abstract Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the contribution of these variants in the South American population is unknown. Furthermore, there is little information about the effect of these risk alleles in women with early BC diagnosis. In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs13387042 (2q35), and rs13281615 (8q24) with BC risk in 344 Chilean BRCA1/2-negative BC cases and in 801 controls. Two SNPs, rs3803662 and rs13387042, were significantly associated with increased BC risk in familial BC and in non-familial early-onset BC. The risk of BC increased in a dose-dependent manner with the number of risk alleles (P-trend < 0.0001 and 0.0091, respectively). The odds ratios for BC in familial BC and in early-onset non-familial BC were 3.76 (95%CI 1.02-13.84, P = 0.046) and 8.0 (95%CI 2.20-29.04, P = 0.002), respectively, for the maximum versus minimum number of risk alleles. These results indicate an additive effect of the TOX3 rs3803662 and 2q35 rs13387042 alleles for BC risk. We also evaluated the interaction between rs3803662 and rs13387042 SNPs. We observed an additive interaction only in non-familial early-onset BC cases (AP = 0.72 (0.28-1.16), P = 0.001). No significant association was observed for rs13281615 (8q24) with BC risk in women from the Chilean population. The strongly increased risk associated with the combination of low-penetrance risk alleles supports the polygenic inheritance model of BC. es_CL
dc.format.extent 8 es_CL
dc.language.iso en_US es_CL
dc.publisher Springer es_CL
dc.subject Breast cancer es_CL
dc.subject Polymorphisms es_CL
dc.subject TOX3 es_CL
dc.subject TNRC9 es_CL
dc.subject 2q35 es_CL
dc.subject 8q24 es_CL
dc.title Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population es_CL
dc.type Artículo es_CL


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