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Next Generation Sequencing (NGS) in Cancer Genetics


Introduction to Cancer Genetics

Cancer, also termed as malignant tumour, is characterised by abnormal cell growth. The International Cancer Genome Consortium supports projects in different cancer research fields. The causation of cancer is multi factorial and for individual cancer diseases the root might not be assigned completely.  Important factors that are associated with the occurrence of cancer are: lifestyle, infections, medications, environmental pollution, stress, and genetic predisposition. 

These factors or a combination of different factors can induce changes in the genome and in the balance of gene expression and gene regulation leading to abnormal cell growth. These changes are also referred to as mutations. The normal cell regulation, growth control and apoptosis programs try to fix disbalances. If changes are to substantial the body system will not be able to remediate it. Cells can become immortal and cell division is no more controlled by the body system. This can lead to high mortality rates of cancer patients.  

In summary, the genome and its regulation by peptides, proteins, RNAs and other factors will balance and determine the cell proliferation and tissue growth. This regulation is not only effected by mutations of the genome it is also controlled by epigenetic processes. Epigenetic alterations can be induced by changes in DNA methylation or histone modification. 

More general information on cancer are available on the cancer.net website. 


Next Generation Sequencing in Cancer and Precision Medicine 

A number of genetic predispositions that can be related to cancer are already described including mutations in regulatory genes that are associated with specific cancer types. Gathering of additional sequencing data from patients and healthy people will enhance these databases.

NGS is more and more applied in personalized medicine in order to study the progress of individual cancer types and to find the most effective treatments. For more information about NGS application and its limitations in precision medicine for cancer we recommend the review from Friedman et al

Furthermore, investigations in DNA methylation related to gene regulation are realised by NGS. The understanding and implementation of these information will improve the current methods for cancer screening, diagnosis and treatment.


Next Generation Sequencing in Cancer Diagnostics

There are different databases available, including information about potential mutations and genetic markers related to specific cancer types. Common cancer diagnostics includes visual diagnostics by FFPE tissue staining, biomarker detection and the diagnosis of symptoms and medical signs. 

In order to enhance the chances to cure cancer with the right treatments an early, sensitive and specific diagnosis of cancer is of utmost importance. A number of targeted gene panels for NGS based analysis of potential know mutations and genetic markers that are associated with elevated risk for developing cancer are introduced under NGS in Cancer Diagnostics.


Outlook NGS in Cancer Genetics, Diagnostics and Medicine

It has to be mentioned that there will be no diagnostic or screening tool available that is 100% specific and sensitive. WGS, WES and WTS might be favourable over targeted specific approaches in particular cases. Gathering further knowledge about the genetic background in different cancers is important to improve molecular diagnostics, prognosis and treatment methods.

The evaluation and validation of cancer screening tools is complex and depending on the region, some of these tools are restricted to research use only and are not approved for diagnostics. Due to missing validation data and comparatistics it will be difficult to make any recommendation. 

The outstanding efforts in NGS based cancer genetic research will constantly improve future cancer diagnosis, prognosis and will help to find better treatment solutions.


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