Molecular Profiles of Breast Cancer in a Single Institution

Abstract

Background/Aim: Historically, breast cancer has been treated according to an evaluation of biomarkers, such as the estrogen receptor and HER2 status. Recently, molecular profiling has been used to detect driver mutations and select anti-cancer treatment strategies. In addition to detecting pathogenic mutations, the total mutation count (tumor mutation burden) has been considered as another biomarker. Materials and Methods: We performed molecular profiling of 143 breast cancer tissues obtained from resected tissues via surgical operation. Results: Suspected germline mutations were detected in 10% of the patients with a higher somatic mutation ratio. Conclusion: As hypermutated breast cancers are more likely to benefit from certain anti-cancer treatment strategies, molecular profiling can be used as a biomarker.All cancers arise as a result of mutations (germ-line/somatic) in the genome (1). Historically, breast cancer has been treated according to a biomarker evaluation, including the estrogen receptor and HER2 status (2, 3). Currently, multigene assays are widely used to predict the risk of relapse after surgery (4). While some of these variabilities are explained by traditional clinicopathological factors (including patient age, tumor stage, histological grade, and estrogen receptor status), molecular profiling studies have defined breast cancer subtypes with distinct clinical outcomes (5).To better understand the genomic backgrounds of patients, we performed a molecular profiling study of breast cancer patients in a single institution.

Germline and Somatic Mutations in Archived Breast Cancer Specimens of Different Subtypes

“…The primary evaluation of germline and somatic variants in tumor specimens was performed using algorithms proposed previously [20], as well as according to the NCCN (National Comprehensive Cancer Network) recommendations [23].…”

“…Paired testing of tumor DNA samples and germline cells (blood or normal tissue) is considered the gold standard. At the same time, the potential to identify inherited genetic variants based on sequencing of tumor DNA without analyzing germline DNA is attractive [19][20][21]. This possibility minimizes the cost and duration of genetic testing as well, and makes it possible to analyze archived material in cases where only tumor tissue is available.…”

Mining the Biomarkers and Associated-Drugs for Esophageal Squamous Cell Carcinoma by Bioinformatic Methods

“…High-throughput sequencing has been broadly applied in many diseases, particularly, in cancers (Freimanis and Oade 2020;Kamio et al 2020;Pillay et al 2020). Various public databases are available for obtaining clinical and sequencing data that are uploaded after analysis.…”