viernes, 15 de marzo de 2024

Cancer risks among first-degree relatives of women with a genetic predisposition to breast cancer. Qingyang Xiao et al. J Natl Cancer Inst 2024 2 (Posted Feb 22, 2024 9AM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=fhh&query=home From the abstract: "We used women from two Swedish cohorts (KARMA and pKARMA), including 28,362 women with genotyping data and 13,226 with sequencing data. Using Swedish Multi-Generation Register, we linked these women to 133,389 first-degree relatives. Associations between protein-truncating variants (PTVs) in 8 risk genes and breast cancer polygenic risk score (PRS) in index women and cancer risks among their relatives were modeled via Cox regression.Female relatives of index women who were PTV carriers in any of the 8 risk genes had an increased breast cancer risk compared to those of non-carriers (HR 1.85, 95% CI: 1.52-2.27), with the strongest association found for PTVs in BRCA1/2. "

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