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Cancer Prevention: What You Need To Know

Definition of Terms

Ataxia-Telangiectasia: This inherited disorder affects many multiple systems in the body, including progressive degeneration of the cerebellum, a part of the brain, the appearance of spider veins, immunodeficiency that leads to recurrent respiratory infections, and a predisposition to cancer. It may include cancer of the brain, breast, leukemia, lymphoma, skin, stomach and uterus.

Basal Cell Nevus Syndrome: Also known as Gorlin’s syndrome. This disorder causes a wide array of birth defects including numerous skeletal and craniofacial abnormalities (fused ribs, extra digits, spina bifida) and a number of cancers, including multiple basal cell carcinomas of the skin, ovarian cancer, and medulloblastoma, a brain cancer in children.

Bloom Syndrome: An inherited disorder characterized by short height, a sun-sensitive redness on the face, susceptibility to infections, and a tendency to develop several types of cancers, including breast, cervix, colon, esophagus, larynx, lung, skin, and tongue cancers, and leukemia and lymphoma.

BRCA1: A mutation in the BRCA1 gene confers an 85% chance of developing breast cancer during a woman’s lifetime, and a 44% risk of developing ovarian cancer. Women without these mutations have a 10% (breast) and 1% (ovarian) risk. Males with BRCA1 mutations are also at risk of developing breast cancer. It may also play a role in hereditary brain, colon, lung, melanoma, pancreas, prostate, skin, and soft tissue cancers. The normal function of the BRCA gene is to slow cell growth. It was discovered in 1994.

BRCA2: A mutation prevents this gene from producing a tumor suppression protein which controls cell growth. This gene was discovered in 1995 and is linked to breast and pancreatic cancer, and possibly colon and prostate cancer.

Cowden Syndrome: Also known as Multiple Hamartoma Syndrome. Affects primarily women, causes skin rashes, tiny wart-like bumps, thyroid disease, and severe benign fibrocystic disease. By age 40, 50 to 75 percent of women with Cowden’s syndrome develop breast cancer. It can also be associated with kidney, Merkel cell skin, and thyroid cancers.

Familial Adenomatous Polyposis (FAP): Also known as Gardner’s syndrome, is characterized by adenomatous polyps in the colon and rectum which progress through dysplasia to malignancy, with a mean age at diagnosis of 40 years. Patients may also develop cancer of the adrenal gland, bile duct, bone, central nervous system, liver, small intestine (duodenum), stomach or thyroid. Some patients may have benign extraintestinal manifestations affecting the eyes, skin or skeleton.

Familial Melanoma Syndrome: An inherited syndrome where family members develop melanoma, a type of skin cancer. The syndrome was first recognized in 1820. The disease is usually diagnosed at an early age and patients have multiple primary sites. Patients with familial melanoma have a better survival rate than individuals with sporadic melanoma. These patients are also at risk for developing pancreatic cancer. The p16 gene may play a significant role in familial melanoma syndrome.

Familial Non-Medullary Thyroid Cancer: Papillary thyroid cancers develop at a young age and are bilateral in this inherited cancer. Colon cancer and other abdominal cancers may occur in relatives.

Fanconi Anemia: An inherited disorder afflicting all bone marrow elements and associated with cardiac, renal and limb malformations, as well as skin pigment changes. Patients with Fanconi’s anemia have an increased risk of developing leukemia, cancer of the liver, and squamous cell carcinomas of the anus, cervix, esophagus, head and neck, and vulva. They may also be at risk for brain tumors.

Hereditary Prostate Cancer 1: Johns Hopkins researchers identified a specific gene which predisposes men to develop prostate cancer. It is called the hereditary prostate cancer 1 or HPC1 and is located on chromosome 1. About 5 to 10 percent of all prostate cancers appear to be inherited. Of these, the HPC1 appears to be responsible for 30 to 40 percent of the hereditary form.

Li-Fraumeni Syndrome: Individuals are at risk for developing multiple cancers at unusually early ages. It may include cancers of the adrenal glands, brain, breast, bone, lung, melanoma skin cancer, pancreas, prostate, and germ cell ovarian and testicular cancer, as well as leukemia, lymphoma and soft tissue sarcomas. Additional cancer sites may include the larynx and stomach. Patients with this syndrome have a nearly 50% chance of developing an invasive cancer by age 30 (compared to 1% chance for general population). More than 90% of these patients will have cancer by age 70.

Lynch I and II Syndromes: Also known as Hereditary Nonpolyposis Colorectal Cancer. These syndromes result from mutations in any one of four genes. Colon cancer occurs in 85 to 90 percent of patients and at a young age (before 45). Patients usually have only one or a few adenomatous polyps. In the Lynch syndromes, 70% of colon cancers occur in the right side of the colon. Lynch syndrome II has all of the features of Lynch syndrome I, but also includes risk of a number of cancers outside the colon, including cancers of the bile duct, bladder, brain, ovary, pancreas, skin, small intestine, stomach, uterus, and urologic systems.

Muir-Torre Syndrome: Concurrent or sequential diagnosis of at least one sebaceous gland tumor and a minimum of one internal malignancy. Internal malignancies may include cancers of the larynx, colon, skin, and small intestine (duodenum).

Multiple Endocrine Neoplasia I: Also known as Zollinger-Ellison Syndrome. This is an inherited disorder that affects the endocrine glands. It is also called familial multiple endocrine adenomatosis type I or Wermer Syndrome. Cancers associated with MEN 1 include adrenal gland, bronchi (lung), ovary, parathyroid, pancreas, pituitary, small intestine (duodenum), thymus, and soft tissue sarcomas.

Multiple Endocrine Neoplasia II: A hereditary disorder in which two or more endocrine glands develop an overgrowth of normal cells (hyperplasia) or of malignant cells. Endocrine glands most likely affected include the adrenal glands, parathyroid, and thyroid.

Neurofibromatosis: Also known as von Recklinghausen’s disease. This is an inherited disorder characterized by developmental changes in the nerves, muscles, bones and skin. It may result in lumps all over the body. Although rarely fatal, as many as 25% of patients with this disorder may develop cancer of the adrenal gland, brain, central nervous system, eye, hypothalamus, kidney, parathyroid, small intestine (duodenum) spinal cord, and soft tissue sarcomas. Children may also develop leukemia.

p53 Gene: The p53 gene is a tumor suppressor gene that normally prevents abnormal cells from replicating. When p53 is missing or inactivated, it allows cells to grow uncontrolled. It is believed that the p53 gene is mutated in as many as 60% of human tumors, including tumors of the bladder, brain, breast, cervix, colon, esophagus, head and neck, liver, lung, pancreas, prostate, soft tissue, stomach, uterus, leukemias and lymphomas. Scientists continue to study the intricate workings of this gene.

Peutz-Jeghers Syndrome: In this disorder patients experience multiple polyps in the gastrointestinal tract and melanin spots occur on the lips, oral mucosa and fingers. Polyps may also occur in the urinary and pulmonary systems. Patients are at increased risk for cancers of the breast, cervix, colon, ovary, pancreas, small intestine and testes.

Retinoblastoma Gene: Retinoblastoma is a rare, sometimes hereditary type of cancer of the eye which occurs primarily in infants and young children. About 40% of all cases are the hereditary type. When it is inherited, it frequently occurs in both eyes. These patients are also at risk for second cancers, including bone, brain, leukemia and lymphoma, melanomas, and soft tissue sarcomas.

Tuberous Sclerosis: Also known as Bourneville’s Disease, this is a multi-system inherited condition that can affect the brain, eyes, heart, lungs, kidneys, and other organs. Many of the clinical manifestations of TS result from malformations in the affected organs, and abnormal neuronal migration plays a major role in neurologic dysfunction. The predominate neurologic manifestations are mental retardation, epileptic seizures and psychiatric and behavioral problems. Patients are at increased risk for childhood brain tumors and renal cell cancers.

Turcot Syndrome: Turcot’s syndrome is characterized by the concurrence of a primary malignant brain tumor and multiple colorectal adenomas. Patients are also at risk for developing multiple basal cell cancers of the scalp, and stomach cancer.

von Hippel-Lindau Syndrome: von Hippel-Lindau is a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels. In patients with von Hippel-Lindau, the blood vessels grow like small knots called angiomas or hemangioblastomas. Possible cancer sites include the adrenal gland, brain, kidney, pancreas and spinal cord.

Werner Syndrome: Werner Syndrome patients develop, as young adults, many of the changes associated with aging. These changes include the graying and loss of hair, cataract formation, hardening of the arteries, osteoporosis, diabetes, skin changes, and cancer. These patients are at risk for developing cancer of the bile duct, bone, brain, breast, liver, melanoma of the skin, soft tissue sarcomas, stomach, thyroid and leukemia.

Wilms Tumor Gene: Also known as nephroblastoma. Wilms Tumor is a type of kidney cancer that develops in children. Researchers believe there are both hereditary and non-hereditary forms of this disease. The Wilms Tumor Gene is also linked with mesothelioma, a type of lung cancer, and/or abdominal cancer.

Xeroderma Pigmentosum: An inherited disorder that causes extreme sensitivity to sunlight and early onset of skin cancers, including basal and squamous cell and melanoma. Patients are also at risk for cancers of the brain, lung, stomach, tongue, and melanoma of the eye, and leukemia.

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