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Article

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

Journal of medical genetics - 1 Oct 2023

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

Abstract excerpt

PURPOSE: To investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer. METHODS: We undertook BRCA1/2 and CHEK2 c.1100delC molecular analysis in 764 samples and a multigene panel in 156. Detection rates were assessed by age at first primary, Manchester Score, and breast pathology. Oestrogen receptor (ER) status of the contralateral versus first breast cancer was compared...

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PMID: 37055167
DOI: 10.1136/jmg-2023-109196

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