Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer

Conclusion
We have shown a high rate of detection of BRCA1 and BRCA2 PVs in triple negative and grade 3 ER+HER2– first primary diagnoses, respectively. High rates of HER2+ were associated with CHEK2 PVs, and women ≤30 years were associated with TP53 PVs. First primary ER status in BRCA1/2 strongly predicts the second tumour will be the same ER status even if unusual for PVs in that gene.

Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Evans, D. G., Burghel, G. J., Schlecht, H., Harkness, E. F., Gandhi, A., Howell, S. J., Howell, A., Forde, C., Lalloo, F., Newman, W. G., Smith, M. J., Woodward, E. R. Tags: Cancer genetics Source Type: research