Cancer is a disease of abnormal and improperly unregulated growth of cells in the body. Cancer most often starts in a single cell by initiating genetic mutations in the DNA. That cell divides and develops into a small mass of cells, then to a larger mass. More changes occur in the DNA, cellular changes occur in the way the cells regulate their genes, and the cancer progresses. The mass of cells that develops, known as a tumor, is not like the surrounding normal tissue in a number of critical ways: there is more cellular proliferation; cell shape is changed; many aspects of cellular metabolism are altered; the normal process of tissue maintenance, known as homeostasis, is deranged; and the tumor can progress to break free of the site at which it developed and invade other areas of the body. It is this last potential property of cancer cells, known as metastasis, that makes cancers dangerous.
Persons with Bloom's syndrome are predisposed to the development of cancer. The predisposition stands out in three ways:
- Cancers develop at the same sites at which they develop in persons in the general population, and they include the common types—leukemias, lymphomas, and carcinomas.
- Cancers develop much earlier in life than they do in persons of the general population.
- There is a much higher chance that more than one cancer will develop in persons with Bloom's syndrome than in persons of the general population.
These three features of the cancer predisposition in Bloom's syndrome make it a model for the study of cancer generally. From this model, we can learn how cancer develops in other people. And, if we can figure out how to treat cancer in persons with Bloom's syndrome, we learn at the same time how it can be treated in others.
There are some excellent reviews of Bloom's syndrome and cancer, including an update from the Bloom's Syndrome Registry of the cancers that have occurred in the 265+ persons the Registry has followed since 1954. The Registry also presents similar information on its website. A more technical description of the cancers in Bloom's syndrome appears in the scientific journal publication Bloom's syndrome. XX. The first 100 cancers (German, J., Cancer Genetics and Cytogenetics 93:101-107, 1997). For free, full-text access to these publications, see list at bottom of page. (Non-members: some items may not be listed, per publisher agreement.)
Because cancer is the predominant clinical consequence, the Bloom's Syndrome Association is extremely motivated to raise money to address this life-threatening issue. We have established an endowment fund to stably fund research into this problem. To achieve this goal, we strongly urge you to donate to this fund.