Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population
Author
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Leyton, Yessica
Author
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González Hormazábal, Patricio
Author
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Blanco Castillo, Rafael
Author
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Bravo, Teresa
Author
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Fernández Ramires, Ricardo
Author
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Morales, Sebastián
Author
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Landeros, Natalia
Author
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Reyes, José M.
Author
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Peralta Musre, Octavio
Author
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Tapia, Julio C.
Author
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Gómez, Fernando
Author
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Waugh, Enrique
Author
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Ibáñez, Gladys
Author
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Pakomio, Janara
Author
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Grau, Gilberto
Author
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Jara Sosa, Lilian
Admission date
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2015-08-18T20:02:54Z
Available date
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2015-08-18T20:02:54Z
Publication date
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2015
Cita de ítem
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BMC Cancer 2015, 15:30
en_US
Identifier
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DOI 10.1186/s12885-015-1033-3
Identifier
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https://repositorio.uchile.cl/handle/2250/132885
General note
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Artículo de publicación ISI
en_US
Abstract
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Background
Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer (BC) in several populations. Nevertheless its contribution in the South-American population is unknown. The goal of this study was to determine the prevalence of PALB2 mutations in the Chilean population.
Methods
100 Chilean BRCA1/2-negatives familial BC cases were included for the PALB2 mutation analysis. We use conformational sensitive gel electrophoresis and direct sequencing. Using a case-control design, we studied the identified variants in 436 BC cases and 809 controls to evaluate their possible association with BC risk.
Results
No pathogenic mutations were detected. We identified three variants, the variant c.1861C > A not previously described was found in one of the 436 cases and none of the 809 controls. The bioinformatic analyses indicate that this variant probably is not pathogenic. PALB2 c.1676A > G (rs152451A/G) and c.2993C > T (rs45551636C/T) variants were significantly associated with increased BC risk only in cases with a strong family history of BC (OR = 1.9 [CI 95% 1.3-2.8] p < 0.01 and OR = 3.3 [CI 95% 1.4-7.3] p < 0.01, respectively). The rs152451A/G-rs45551636C/T composite genotype produce increase of the BC risk in cases with a strong family history of BC (OR = 3.6 [CI 95% 1.7-8.0] p = 0.003). The rs152451-G/rs45551636-C and rs152451-G/rs45551636-T haplotypes were associated with an increased BC risk only in cases with a strong family history of BC (OR = 1.6 [CI 95% 1.0-2.5] p = 0.05 and OR = 3.7 [CI 95% 1.8-7.5] p < 0.001, respectively).
Conclusion
Our results suggest that PALB2 c.1676A > G and c.2993C > T play roles in BC risk in women with a strong family history of BC.
en_US
Patrocinador
dc.description.sponsorship
Fondo Nacional de Desarrollo Cientifico y Tecnologico (FONDECYT)
1110081
Corporacion Nacional del Cancer