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

D Gareth Evans,George J Burghel,Helene Schlecht,Elaine F Harkness,Ashu Gandhi,Sacha J Howell,Anthony Howell,Claire Forde,Fiona Lalloo,William G Newman,Miriam Jane Smith,Emma Roisin Woodward

Journal of medical genetics（2023）

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摘要

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

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genetic predisposition to disease,genetic research

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