Article
Extended gene panel testing in lobular breast cancer.
Familial cancer - 1 Apr 2022
van Veen Elke M, Evans D Gareth, Harkness Elaine F, Byers Helen J, Ellingford Jamie M, Woodward Emma R, Bowers Naomi L, Wallace Andrew J, Howell Sacha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam J
Abstract excerpt
PURPOSE: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. METHODS: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1,...
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