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Why are people with Bloom's disease ten times more likely to have cancer than the general population?
Bloom Syndrome is a rare autorecessive genetic disorder characterized by short stature, susceptibility to cancer, and genomic instability. The disease is caused by mutations in the BLM gene, which belongs to the RecQ family of DNA helicases. Such mutations cause patient cells to exhibit surprising genomic instability, increasing the risk of cancer. According to data, patients with Bloom's disease are ten times more likely to develop cancer than ordinary people. Why is this?
One of the hallmarks of Bloom's disease is abnormal instability of the genome, which makes cells more susceptible to mutations that ultimately lead to the development of cancer.
Causes and genetics of Bloom's disease
Bloom's disease is an auto-recessive genetic disease caused by base logarithm mutations in mammals. These mutated BLM genes play an important role in DNA replication and repair. This defect results in a high frequency of sister monomer exchanges and genetic mutations, making cells more vulnerable to damage from external environments such as ultraviolet light and chemicals.
According to research, cells from patients with Bloom's disease undergo sister monomer exchanges about ten times more frequently than normal people.
Related cancer risks
People with Bloom's disease are at risk for a variety of cancers, including leukemia, lymphoma, and other malignancies that vary according to age. Their previous medical record statistics found that most patients were diagnosed with cancer before the age of 26, whereas in the general population, different types of cancer tend to develop at a much later age.
People with Bloom's disease often develop cancer at an earlier age and often have multiple cancers.
Clinical manifestations and diagnosis
Clinical features of Bloom's disease are often observed before or soon after birth. Patients are often smaller than normal and may develop a red rash on the face caused by sun exposure. These skin lesions may improve as you age. Diagnosis usually relies on increased levels of sister monomer exchange in cells, or genetic testing to confirm mutations in the BLM gene.
Treatment methods and prognosis
There is currently no specific treatment for Bloom's disease, and treatment for patients mainly focuses on improving their quality of life. For example, avoiding sun exposure and using sun protection can reduce the occurrence of some skin symptoms. Additionally, avoiding exposure to other known environmental carcinogens is an important preventive measure.
The average life expectancy for people with Bloom's disease is about 27 years, and the most common cause of death is cancer.
Conclusion
The complexity and prominent cancer risks of Bloom's disease have prompted scientists and medical professionals to conduct further research to find solutions. Although there is currently no cure, early diagnosis and appropriate management of the disease may improve patients' quality of life and extend their lives. With so many challenges ahead, how will future research impact the understanding and treatment of Bloom's disease?
