scholarly journals Subdivision of molecularly-classified groups by new gene signatures in breast cancer patients

2012 ◽  
Vol 28 (6) ◽  
pp. 2255-2263 ◽  
Author(s):  
ATHANASIOS ARMAKOLAS ◽  
GEORGE P. STATHOPOULOS ◽  
ADRIANOS NEZOS ◽  
APOSTOLOS THEOS ◽  
MARTHA STATHAKI ◽  
...  
2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9503-9503
Author(s):  
D. C. Sgroi ◽  
X. J. Ma ◽  
P. Ryan ◽  
Z. Wang ◽  
J. Younger ◽  
...  

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9503-9503 ◽  
Author(s):  
D. C. Sgroi ◽  
X. J. Ma ◽  
P. Ryan ◽  
Z. Wang ◽  
J. Younger ◽  
...  

2019 ◽  
Vol 3 (1) ◽  
Author(s):  
Jean-Sébastien Milanese ◽  
Chabane Tibiche ◽  
Jinfeng Zou ◽  
Zhigang Meng ◽  
Andre Nantel ◽  
...  

Abstract Germline variants such as BRCA1/2 play an important role in tumorigenesis and clinical outcomes of cancer patients. However, only a small fraction (i.e., 5–10%) of inherited variants has been associated with clinical outcomes (e.g., BRCA1/2, APC, TP53, PTEN and so on). The challenge remains in using these inherited germline variants to predict clinical outcomes of cancer patient population. In an attempt to solve this issue, we applied our recently developed algorithm, eTumorMetastasis, which constructs predictive models, on exome sequencing data to ER+ breast (n = 755) cancer patients. Gene signatures derived from the genes containing functionally germline variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts (n = 200 and 295, P = 1.4 × 10−3). Furthermore, we compared our results with the widely known Oncotype DX test (i.e., Oncotype DX breast cancer recurrence score) and outperformed prediction for both high- and low-risk groups. Finally, we found that recurred patients possessed a higher rate of germline variants. In addition, the inherited germline variants from these gene signatures were predominately enriched in T cell function, antigen presentation, and cytokine interactions, likely impairing the adaptive and innate immune response thus favoring a pro-tumorigenic environment. Hence, germline genomic information could be used for developing non-invasive genomic tests for predicting patients’ outcomes in breast cancer.


2018 ◽  
Author(s):  
Jean-Sébastien Milanese ◽  
Chabane Tibiche ◽  
Jinfeng Zou ◽  
Zhi Gang Meng ◽  
Andre Nantel ◽  
...  

AbstractGermline genetic variants such as BRCA1/2 play an important role in tumorigenesis and clinical outcomes of cancer patients. However, only a small fraction (i.e., 5-10%) of inherited variants has been associated with clinical outcomes (e.g., BRCA1/2, APC, TP53, PTEN and so on). The challenge remains in using these inherited germline variants to predict clinical outcomes of cancer patient population. In an attempt to solve this issue, we applied our recently developed algorithm, eTumorMetastasis, which constructs predictive models, on exome sequencing data to ER+ breast (n=755) cancer patients. Gene signatures derived from the genes containing functionally germline genetic variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts (n=200 and 295, P=1.4×10−3). Furthermore, we found that recurred patients possessed a higher rate of germline genetic variants. In addition, the inherited germline variants from these gene signatures were predominately enriched in T cell function, antigen presentation and cytokine interactions, likely impairing the adaptive and innate immune response thus favoring a pro-tumorigenic environment. Hence, germline genomic information could be used for developing non-invasive genomic tests for predicting patients’ outcomes (or drug response) in breast cancer, other cancer types and even other complex diseases.


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