Integrating Genetic and Genomic Testing Into Oncology Practice

2020 ◽  
pp. e259-e263
Author(s):  
Susan M. Domchek ◽  
Elaine Mardis ◽  
Jennifer W. Carlisle ◽  
Taofeek K. Owonikoko
Keyword(s):  
Genetic Information ◽  
Somatic Mutations ◽  
Germline Mutations ◽  
Therapeutic Decision ◽  
Prevention Strategies ◽  
Cancer Types ◽  
Screening And Prevention ◽  
Oncology Practice ◽  
Therapeutic Decision Making ◽  
Cancer Germline

Genetic information, both germline and somatic, is an increasingly important consideration in therapeutic decision-making in cancer. Germline mutations in genes associated with increased cancer risk can identify those individuals without cancer who may benefit from enhanced screening and prevention strategies. In individuals with cancer, germline and somatic mutations may help to guide local and systemic management decisions. Here, we review considerations of these issues in selected cancer types.

The Prescription as Final Common Pathway

1995 ◽  
Vol 11 (3) ◽  
pp. 384-390 ◽  
Author(s):  
Jerry Avorn
Keyword(s):  
Decision Making ◽  
Cost Effectiveness ◽  
Health Economics ◽  
Medical Care ◽  
Clinical Medicine ◽  
Decision Science ◽  
Therapeutic Decision ◽  
Common Pathway ◽  
Final Common Pathway ◽  
Therapeutic Decision Making

AbstractThere is an informational void about Pharmaceuticals in the training of most doctors, despite the importance of the prescription in medical care. The writing of the prescription is the final common pathway in therapeutic decision making, which involves such diverse forces and disciplines as anthropology, decision science, health economics, ethics, and politics, as well as pharmacology and clinical medicine. Programs to improve the precision and cost-effectiveness of doctors' prescribing must consider all of these factors if pharmacotherapeutics are to be used optimally.

Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors

2021 ◽  
Author(s):  
Juan Chen ◽  
Yan Li ◽  
Jianlei Wu ◽  
Yakun Liu ◽  
Shan Kang
Keyword(s):  
Germ Cell ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Peripheral Blood ◽  
Copy Number ◽  
Somatic Mutations ◽  
Germ Cell Tumors ◽  
Germline Mutations ◽  
Deletion Region ◽  
Whole Exome

Abstract Background Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing. Methods The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. For those genes corresponding to copy number alterations (CNA) deletion and duplication region, functional annotation of was performed. Immunohistochemistry was performed to evaluate the expression of mutated genes corresponding to CNA deletion region. Results In peripheral blood, copy number loss and gain were mostly found in yolk sac tumors (YST). Moreover, POU5F1 was the most significant mutated gene with mutation frequency > 10% in both CNA deletion and duplication region. In addition, strong cytoplasm staining of POU5F1 (corresponding to CNA deletion region) was found in 2 YST and nuclear staining in 2 dysgerminomas (DG) tumor samples. Genes corresponding to CNA deletion region were significantly enriched in the signaling pathway of regulating pluripotency of stem cells. In addition, genes corresponding to CNA duplication region were significantly enriched in the signaling pathways of RIG-I-like receptor, Toll-like receptor, NF-kappa B and Jak–STAT. KRT4, RPL14, PCSK6, PABPC3 and SARM1 mutations were detected in both peripheral blood and tumor samples. Conclusions Identification of potential germline mutations and somatic mutations in MOGCTs may provide a new field in understanding the genetic feature of the rare biological tumor type in the ovary.

Therapeutic decision making in BMT/SCT for hemoglobinopathies

2013 ◽  
pp. 179-191
Author(s):  
Shalini Shenoy ◽  
Reinhold Munker ◽  
Kerry Atkinson
Keyword(s):  
Decision Making ◽  
Therapeutic Decision ◽  
Therapeutic Decision Making

Therapeutic decision making in BMT/SCT for soft tissue sarcomas

2013 ◽  
pp. 159-164
Author(s):  
Reinhold Munker ◽  
Vishwas Sakhalkar ◽  
Hillard M. Lazarus ◽  
Kerry Atkinson
Keyword(s):  
Decision Making ◽  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Therapeutic Decision ◽  
Therapeutic Decision Making

Therapeutic decision making in BMT/SCT for myelodysplasia

2013 ◽  
pp. 77-89
Author(s):  
Carolina Escobar ◽  
Reinhold Munker ◽  
Kerry Atkinson
Keyword(s):  
Decision Making ◽  
Therapeutic Decision ◽  
Therapeutic Decision Making
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