Genes with mutation significance were highly associated with the clinical pattern of patients with breast cancer
نویسندگان
چکیده
In the United States, breast cancer is the second leading cause of cancer death in women. Over the past 20 years, breast cancer incidence and mortality rates increased rapidly in developing regions. We aimed to identify the gene mutation patterns that associated with the clinical patterns, including survival status, histo-pathological classes and so forth, of breast cancer. We retrieved 1098 cases of the clinical information, and level-3 legacy data of mRNA expression level, protein expression data and mutation files from GDC data portal. The genes with mutation significance were obtained. We studied the impacts of mutation types on the expression levels of mRNA and protein. Different statistics methods were used to calculate the correlation between the mutation types and the expression data or histo-clinical measures. There were 24 genes with mutation significance identified. The most mutated genes were selected to study the role of specific mutations played on the patients with breast cancer. One interesting finding was the missense mutations on TP53 were related with high expression levels of mRNA and protein. The missense mutations on TP53 were highly related with the morphology, race, ER status, PR status and HER2 Status, while the truncated mutations were only related with the morphology, ER status and PR status. The missense mutation on PIK3CA was highly associated with the morphology, race, ER status and PR status. The mutants with different mutants and the wild type of the most mutated genes had different impacts on the histo-clinical measures that might help personalized therapy.
منابع مشابه
Identification of Prognostic Genes in Her2-enriched Breast Cancer by Gene Co-Expression Net-work Analysis
Introduction: HER2-enriched subtype of breast cancer has a worse prognosis than luminal subtypes. Recently, the discovery of targeted therapies in other groups of breast cancer has increased patient survival. The aim of this study was to identify genes that affect the overall survival of this group of patients based on a systems biology approach. Methods: Gene expression data and clinical infor...
متن کاملMinor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women
Objective(s): Breast cancer is the most common cancer in women. Every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. Hereditary BRCA1 and BRCA2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. The aim of this study was to determine the frequency of BRCA2 (e...
متن کاملDetection of P 53 gene mutations in exons 5 and 8 in patients of familial breast cancer with PCR-SSCP methode.
Background: Breast cancer is one of the most common cancer of women in the world. Although different genetic alteration has been reported in this malignancy, but P 53 gene mutations has more frequency. P 53 gene is one of the most important suppressor genes and it play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...
متن کاملExpression and Clinical Significance of Activating Transcription Factor 3 in Human Breast Cancer
Objective(s): Breast cancer is the most common type of cancer among women worldwide. This study investigated the expression and clinical significance of activating transcription factor 3 (ATF3) in human breast cancer and its relationship with the clinical outcome of breast cancer. Materials and Methods : ATF3 expressions were detected in 114 primary breast cancer tissues and ...
متن کاملMutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer
Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The aim of this study was to screen the male patients with breast cancer for BRCA mutations as well as tissue markers of estrogen receptor (ER), progesterone receptor (PR), human e...
متن کامل