Thursday, September 12, 2019

ONCOGENETICS - Aim of Oncogenetic Consultation





Multidisciplinary approach for patients predisposed to or suffering from cancer, is essential for a better outcome. It is conducted by oncologists, radiologists, geneticists, histopathologists, psychologists and social workers.

Oncogenetics is the use of genetic information for better screening and management of cancer according to the genetic profile. Despite the remarkable progress in molecular genetics, family history, pedigree analysis, clinical data analysis, choice of the most adapted genetic test plays a major role in patient care and choice of management plan. All these data are gathered during oncogenetic consultation which is provided by clinical geneticist. Moreover, announcement of genetic results should be conducted by a geneticist, since it has to be accompanied by explanation of the results and their impacts.

Cancer is caused by genetic alteration which induces deregulation of cellular division, cellular function and apoptosis. Genetic mutations causing cancer can be divided into two distinct entities which are germline (inherited form) and somatic mutations (sporadic form) inducing cancers.

Aim of Oncogenetic Consultation
Inherited cancer
Sporadic cancer
1.     Accurate assessment of cancer risk
2.     Focus monitoring / prevention measures for carriers
3.     Reassure non carrier
4.     Precise calculation of risk of transmission to offspring
5.     The right to know
1.     Genetic profiling of tumor through genetic biomarkers
2.     Differentiate between hereditary and sporadic cancers
3.     Guide patient’s management plan with other specialists
4.     Monitor treatment
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In germline mutation, an inherited alteration of tumor suppressor gene or oncogene is 
inherited from one of the parents resulting in early or multiple development of cancer(s) in the same family (inherited cancer). However, this represents 5-10% of all cancer cases. Moreover, development of cancer in such genetically predisposed individuals depends on penetrance of the mutated gene. On the other hand, in somatic mutation, alteration of oncogenes or other cell regulators is induced mainly by environmental factors (sporadic cancer).



Written and edited by Dr Azza Attia
European Board Certified Consultant of Medical Genetics

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