The Genetic Causes of Cancer

Cancer and rare diseases

Does cancer have a genetic cause? In many cases, yes. But there is still much we do not understand about the exact causes of cancer. Undoubtedly, environmental factors also impact the development of cancer in some individuals, but continued research seems to show a genetic element is a cause. In some instances, cancer or an increased risk of developing specific cancers is also a feature or symptom of a rare disease.

Rare cancers are a category of rare diseases in their own right. Many of the challenges patients face with diagnosis and treatment are those that individuals with non-cancer rare diseases also must handle and overcome to receive a confirmed genetic disease diagnosis. Some of these cancers include Acinic cell carcinoma, B-cell lymphoma, Digestive System Melanoma, and Papillary renal cell carcinoma. These are just a few examples of what is a long list of rare cancers. Much as with the entire rare disease field, more research is needed into the causes and symptoms of these rare cancers to improve patient outcomes both before and after diagnosis.

Cancer and genetic syndromes

Some genetic syndromes place affected individuals at a higher risk of developing specific cancers. Individuals with LEOPARD syndrome, for example, are at risk of developing neuroblastoma, a form of cancer that affects the early nerve cells. With Saethre-Chotzen syndrome, individuals may be at greater risk of breast cancer, although the exact risk is unknown. In some instances, diagnosis of rare cancer may warrant further genetic analysis and testing to determine the presence of primary rare disease that the cancer is simply a symptom of.

Cancer diagnosis

When cancer is a symptom of a rare disease, a fast diagnosis is essential to ensure patients receive the right treatment quickly. Cancer may be their most severe symptoms, but most genetic syndromes are multi-symptom disorders that can cause many health and medical issues for those affected.