Abstract
Cancer is a leading cause of death both globally and nationally. Recent advances in research have unraveled the molecular mechanisms responsible for many cancers. This has helped to transform the continuum of cancer care - from primary prevention, to screening and diagnosis, to treatment and follow-up using genetic information gathered by testing patients, their families, and the tumour tissue itself. New guidelines for risk assessment, genetic counseling, and planning of appropriate therapeutic and screening options based on the phenotypic and molecular characterization of cancers have now been developed. Such knowledge is vital not only for the treatment and follow up of patients but more importantly for screening of at risk family members with a hereditary predisposition to cancer. Awareness of their mutation status will allow such family members to make informed decisions regarding reproduction, lifestyle and clinical risk-reduction strategies to prevent future occurrence of cancer. At the national level adopting evidence-based strategies for early detection, counseling, improved surveillance and selection of effective therapeutic options will help to significantly reduce the mortality and morbidity associated with cancer in the country DOI: http://dx.doi.org/10.4038/sljs.v32i2.7350 The Sri Lanka Journal of Surgery 2014; 32(2): 12-19
Highlights
Cancer is defined as the uncontrolled growth and proliferation of cells which can affect any part of the body
Over the past few decades, research into cancer genetics has unraveled the molecular mechanisms responsible for many cancers. It has opened up the possibility of defining cancer from a molecular pathological standpoint which is more accurate than the currently practiced histopathological gradings. This has led to the development of guidelines for risk assessment, genetic counseling, and planning of appropriate therapeutic and screening options based on the phenotypic and molecular characterization of hereditary cancers
Such knowledge is vital for the treatment and follow up of patients but more importantly for screening of individuals with a hereditary predisposition to cancer. Characterization of such genetic mutations allows at risk family members to make informed decisions regarding reproduction, lifestyle and adoption of preventive, clinical risk-reduction measures leading to improved survival and quality of life
Summary
Cancer is defined as the uncontrolled growth and proliferation of cells which can affect any part of the body. Such knowledge is vital for the treatment and follow up of patients but more importantly for screening of individuals with a hereditary predisposition to cancer Characterization of such genetic mutations allows at risk family members to make informed decisions regarding reproduction, lifestyle and adoption of preventive, clinical risk-reduction measures leading to improved survival and quality of life. Knowledge of the genetic mutations in families with hereditary cancer syndromes is vital for planning effective treatment strategies and for the early detection of hereditary cancer risk in other first and second degree relatives. It is necessary to map the clinical and genetic pattern of hereditary cancer syndromes in the local population to determine the prevalent genotypes and phenotypic characteristics The findings from such studies will contribute to the advancement of the generalizable knowledge in the field of cancer genetics in Sri Lanka. The ultimate goal being to reduce cancer morbidity and mortality and improve the quality of life of cancer patients through primary prevention, early detection, improved surveillance and effective treatment options [24]
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