Characterizations of Cancer Gene Mutations in Chinese Metastatic Breast Cancer Patients

Frontiers in Oncology
Zhonghua TaoXichun Hu

Abstract

Background: Breast cancer (BC) is a type of disease with high heterogeneity. Molecular profiling, by revealing the intrinsic nature of its various subtypes, has extensively improved the therapeutic management of BC patients. However, the genomic mutation landscape of Chinese metastatic BC has not been fully explored. Methods: Matched plasma and mononuclear cells from 290 Chinese women with metastatic BC were sequenced using either of the two commercially-available panels consisting of 520 cancer-related and 108 BC-related genes. Both panels cover the same critical regions of 91 genes. The circulating tumor DNA mutation profile from our cohort was then compared with publicly-available metastatic BC datasets from Memorial Sloan Kettering Cancer Center (MSKCC) and Pan-cancer analysis of whole genomes (PCAWG). Results: A total of 1,201 mutations spanning 91 genes were detected from 234 patients, resulting in a mutation detection rate of 80.7%. TP53 (64.1%) was the gene with highest mutation frequency, followed by PIK3CA (31%), PTEN (11%), and RB1 (10%). Copy number amplifications (CNAs) in MYC (14.1%), FGFR1 (13.3%), CCND1 (6.6%), FGF3 (6.6%), FGF4 (6.2%) and FGF19 (6.2%) were also detected from our cohort. TP53 mutations were sign...Continue Reading

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Citations

Mar 7, 2021·Clinical & Experimental Metastasis·Narmeen S RashidJ Chuck Harrell
Mar 30, 2021·Frontiers in Oncology·Chonglin TianXianrang Song
Oct 24, 2021·Clinical Genetics·Galo DuqueNayeli García

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BETA
PRJNA616082

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R
PurePlasma
ClinVar

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