Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.

Christopher J SchwartzNikka KhorsandiAmie BlancoRita A MukhtarYunn-Yi ChenGregor Krings

Published in: Breast cancer research and treatment (2023)

Almost all CHEK2-associated BCs were ER + IDC-NST, with most classified as luminal B with or without HER2 overexpression. NGS supported the luminal-like phenotype and confirmed CHEK2 as an oncogenic driver in the majority of cases. Responses to neoadjuvant chemotherapy were variable but mostly incomplete.

Keyphrases

neoadjuvant chemotherapy
locally advanced
lymph node
sentinel lymph node
transcription factor
cell proliferation
copy number
high grade
squamous cell carcinoma
dna repair
estrogen receptor
breast cancer cells
dna methylation
dna damage