Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.

Ju Won Kim, Hyo Eun Kang, Jimi Choi,Seung Gyu Yun,Seung Pil Jung, Soo Yeon Bae,Ji Young You,Yoon-Ji Choi,Yeul Hong Kim,Kyong Hwa Park

Cancer research and treatment（2023）

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摘要

We demonstrated high sensitivity of gBRCA1/2 in tumors analyzed by NGS using a panel of tumor tissues. TMB value and aberration of non-BRCA1/2 HR-related genes differed significantly according to gBRCA1/2 pathogenicity in patients with breast cancer.

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关键词

BRCA,Breast neoplasms,Genomic landscape,Germ-line mutation,NGS,TMB

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