Rodney J Scott, Andrew Ziolkowski, David Mossman, Michael Hipwell
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Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer.
There is an increasing recognition that comprehensive tumour profiling (CTP) represents an important adjunct to the diagnosis of malignancy providing not only an assessment of how many mutations there are in any given tumour which reflects the probability of immune checkpoint inhibitor success, but also which mutations are associated with targeted therapies, a signature that reflects environmental insult and potentially the identification of cancers of unknown origin.This short review describes an approach to assaying tumour mutational burden (TMB), what the difficulties are in the assessment of the TMB and what it can be applied to in regards to improving patient outcomes. A final section of the review delves into some examples of colorectal cancer studies that identify findings that suggest there remains much to learn about tumour development.
期刊介绍:
Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies.
Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care.
Topics covered by the journal include but are not limited to:
Original research articles on any aspect of inherited predispositions to cancer.
Reviews of inherited cancer predispositions.
Application of molecular and cytogenetic analysis to clinical decision making.
Clinical aspects of the management of hereditary cancers.
Genetic counselling issues associated with cancer genetics.
The role of registries in improving health care of patients with an inherited predisposition to cancer.