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- Title
Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
- Authors
Leyton, Yessica; Gonzalez-Hormazabal, Patricio; Blanco, Rafael; Bravo, Teresa; Fernandez-Ramires, Ricardo; Morales, Sebastian; Landeros, Natalia; Reyes, Jose M.; Peralta, Octavio; Tapia, Julio C.; Gomez, Fernando; Waugh, Enrique; Ibañez, Gladys; Pakomio, Janara; Grau, Gilberto; Jara, Lilian
- Abstract
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 804 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 rs15241A/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.
- Subjects
BREAST cancer risk factors; GERM cells; GENETIC mutation; GENETICS of breast cancer; GEL electrophoresis; SOUTH Americans; BIOINFORMATICS; DISEASE prevalence
- Publication
BMC Cancer, 2015, Vol 15, Issue 1, p1
- ISSN
1471-2407
- Publication type
Article
- DOI
10.1186/s12885-015-1033-3