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Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China

International Journal of Cancer Feb 11, 2019

Deng M, et al. - In a consecutive series of unselected breast cancer patients in the Chinese population, researchers determined the prevalence of germline mutations in BRCA1/2 and PALB2 genes as well as their impacts on clinical outcomes of these patients. Using next-generation sequencing, they screened for all of the exons and exon-intron boundaries of the BRCA1/2 and PALB2 genes in 2769 breast cancer patients. BRCA1, BRCA2 and PALB2 mutations were found to be responsible for 2.7% (n=74), 2.7% (n=76), and 0.9% (n=24), respectively. In patients with triple-negative breast cancer (TNBC), the highest mutation frequency was observed in the BRCA1 gene, while the BRCA2 gene had the highest mutation frequency in patients with Luminal. Findings suggested a possible association of BRCA1 mutation status with a worse disease progression in patients with breast cancer. A higher risk of death due to breast cancer might be observed among women who harbored a PALB2 mutation vs non-carriers.
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