Inherited Diseases and Cancer

An inherited disease is a disease or a disorder that is inherited genetically. They are rare diseases, but if you have one of them you should know that it is possible to have a greater risk of cancer.
People with Fanconi anemia often develop leukemia and other cancers (squamous cell cancers in areas of the body in which cells normally reproduce rapidly, such as the oral cavity, esophagus, the gastrointestinal tract, the anus and vulva). In fact, Fanconi anemia patients have a much greater risk of developing acute myelogenous leukemia (AML) than people without Fanconi anemia.

Patients with Gaucher disease have a significantly increased risk of cancer, occurring in late adulthood. Of all the cancers, hematologic cancers are significantly more prevalent.

Neurofibromatosis Type 1 (aka. von Recklinghausen disease) predisposes to cancer and malignancy is the most common cause of death in people with NF-1. A number of cancers are more common in patients with von Recklinghausen disease. These include a variety of types of malignant brain tumors, as well as leukemia, and cancerous tumors of certain muscles (rhabdomyosarcoma), the adrenal glands (pheochromocytoma), or the kidneys (Wilms’ tumor).

Nijmegen breakage syndrome is associated with high occurrence of lymphoreticular malignancies.

Children with Down syndrome are at an increased risk for childhood leukemia.

There is increased risk of breast cancer in Klinefelter’s syndrome patients.

Although the overall risk of cancer in patients with cystic fibrosis is similar to that of the general population, there is an increased risk of digestive tract cancers.

Hepatocellular carcinoma is one of the most serious complications of hemochromatosis. Patients with von Hippel-Lindau syndrome have a greater risk of adrenal gland cancer. A higher risk for bone cancer was reported in patients with Li-Fraumeni syndrome.

Brain cancer is more frequent in people with ataxia telangiectasia, basal cell nevus syndrome (childhood medulloblastoma), Li-Fraumeni syndrome, retinoblastoma gene, tuberous sclerosis (childhood brain tumor), Turcot syndrome or xeroderma pigmentosum.

A higher risk for cancer was reported in the parents of children with cleft lip/palate. People with Bloom syndrome or Werner syndrome have extremely high risk of cancer, which is often fatal in early adulthood.

People with hereditary nonpolyposis colorectal cancer (Lynch syndrome) have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with this disorder also have a greatly increased risk of endometrial and ovarian cancer.

Hereditary breast ovarian cancer (HBOC) syndrome is characterized by the following features in a family: an early age of onset of breast cancer (often before age 50), family history of both breast and ovarian cancer, increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently) or an individual with both breast and ovarian cancer and an increased incidence of tumors of other specific organs, such as the prostate.

Having one of the inherited diseases listed above doesn’t necessary mean you will develop cancer. It only means you should be careful and tell your doctor about your inherited condition.

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