Publications by authors named "Janara Pakomio"
Article Synopsis
- The study aimed to assess the prevalence of PALB2 mutations in Chilean families with breast cancer (BC), as its role in South American populations was previously unknown.
- Researchers analyzed 100 Chilean individuals with negative BRCA1/2 results, using advanced genetic testing techniques, and compared findings with a larger group of BC cases and controls.
- Although no pathogenic mutations were found, two specific PALB2 variants showed a significant association with an increased risk of BC, particularly in individuals with a strong family history of the disease.
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.
View Article and Find Full Text PDFGenome-Wide Association Studies have identified several loci associated with breast cancer (BC) in populations of different ethnic origins. One of the strongest associations was found in the FGFR2 gene, and MAP3K1 has been proposed as a low-penetrance BC risk factor. In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls.
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