Ribosomes are composed of 4 rRNAs and 80 distinct ribosomal proteins and they are involved in protein synthesis. It is known that disorders in ribosome structure and functions cause ribosomopathies which have predisposition to develop many types of cancer. However, role of ribosomal protein mutations in the development of ribosomopathies in humans remain largely unknown. Heterozygous mutations in some specific ribosomal proteins disrupt ribosome function in protein synthesis and also activate tumour suppressor p53. Furthermore, increase in the number of ribosomes due to activation oncogene or loss of tumour suppressors plays a key role in malignant cell transformation. Precise mechanisms by which these disorders lead to malignant transformation have not yet been elucidated. In this work it is shown how qualitative and quantitative changes in ribosome synthesis lead to the development of ribosomopathies. However, pathogenesis of these diseases is poorly understood as well as the mechanisms leading to malignant transformation. It is important to find out through which molecular mechanisms the transformation of malignant cells occurs to identify potential targets in the treatment of ribosome synthesis disorders.