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February 10, 2012

Gardner's Syndrome (Familial Adenomatous Polyposis) Glossary of Terms

The following are health and medical definitions of terms that appear in the Gardner's Syndrome (Familial Adenomatous Polyposis) article.

Adenomatous polyposis coli: See: APC (meaning 3).

Attenuated: Weakened, diluted, thinned, reduced, weakened, diminished.
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Attenuated familial adenomatous polyposis: An inherited predisposition to colorectal cancer characterized by fewer than 100 adenomatous polyps in the colon and rectum. It is said to be attenuated because there are fewer polyps than in classic familial adenomatous polyposis (FAP). People with attenuated familial adenomatous polyposis (AFAP) also tend to be older at the diagnosis of their polyps (average age of 44 years) and cancer (average age of 56 years), 10 to 15 years later than in classic FAP. The right side of the colon tends to be involved in AFAP and rectal involvement is rare. AFAP is transmitted in an autosomal dominant manner.
See the entire definition of Attenuated familial adenomatous polyposis

Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
See the entire definition of Autosomal recessive

Benign: Not cancer. Not malignant. A benign tumor does not invade surrounding tissue or spread to other parts of the body. A benign tumor may grow but it stays put (in the same place).
See the entire definition of Benign

Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
See the entire definition of Cancer

Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane.
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Colon: The part of the large intestine that runs from the cecum to the rectum as a long hollow tube that serves to remove water from digested food and let the remaining material, solid waste called stool, move through it to the rectum and leave the body through the anus. .
See the entire definition of Colon

Colon cancer: A malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
See the entire definition of Colon cancer

Colorectal: Related to the colon and/or rectum.

Colorectal cancer: Cancer of the colon and rectum. A malignant tumor arising from the inner wall of the large intestine. Risk factors include heredity, colon polyps, and long standing ulcerative colitis. Most colorectal cancers develop from polyps. Removal of colon polyps can prevent colorectal cancer. Since colon polyps and early cancer can have no symptoms, regular screening is important. Diagnosis can be made by barium enema or by colonoscopy with biopsy confirmation of cancer tissue. Surgery is the most common treatment for colorectal cancer.

DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
See the entire definition of DNA

Duodenum: The first part of the small intestine. The duodenum extends from the pylorus at the bottom of the stomach to the jejunum, the second part of the small intestine. The duodenum is a common site for the formation of peptic ulcers. We often live with words without thinking where they come from or what they originally meant. That is the case for me with the duodenum. For decades, this writer knew the duodenum as a short but troubled sector of the small intestine. Only today did I learn that the duodenum began as the dodeka-daktulon, twelve fingers to the Greeks, who astutely observed that the duodenum is about 12 finger-breadths long. In German, the popular term for duodenum is Zwolffingerdarm, the 12-finger intestine.

Familial: A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).

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Familial adenomatous polyposis: Abbreviated FAP. A syndrome characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence. Polyps can also occur in the stomach, duodenum and the terminal ileum.
See the entire definition of Familial adenomatous polyposis

Familial polyposis: An inherited condition in which several hundred polyps develop in the colon and rectum.

FAP: Familial adenomatous polyposis, a prominent hereditary colon cancer syndrome.

Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Gene

Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Genes

Genetics: The scientific study of heredity. Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
See the entire definition of Genetics

Incidence: The frequency with which something, such as a disease, appears in a particular population or area. In disease epidemiology, the incidence is the number of newly diagnosed cases during a specific time period. The incidence is distinct from the prevalence which refers to the number of cases alive on a certain date.

Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
See the entire definition of Inheritance

Intestine: The long, tubelike organ in the abdomen that completes the process of digestion. It consists of the small and large intestines.

Large intestine: Comes after the small intestine. Large because it is wider than the small intestine.

Malignant: 1. Tending to be severe and become progressively worse, as in malignant hypertension. 2. In regard to a tumor, having the properties of a malignancy that can invade and destroy nearby tissue and that may spread (metastasize) to other parts of the body.
See the entire definition of Malignant

Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses.
See the entire definition of Mutation

MUTYH: See: MYH.

Onset: In medicine, the first appearance of the signs or symptoms of an illness as, for example, the onset of rheumatoid arthritis. There is always an onset to a disease but never to the return to good health. The default setting is good health.
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Polyp: A mass of tissue that develops on the inside wall of a hollow organ, as within the colon or rectum. The word polyp comes from the Greek words polys, many + pous, feet. The idea that a polyp has many feet is erroneous. Most polyps have a single pedicle. The term polyp is descriptive. Polyps may be benign, premalignant, or malignant.

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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
See the entire definition of Recessive

Rectum: The last 6 to 8 inches of the large intestine. The rectum stores solid waste until it leaves the body through the anus. The word rectum comes from the Latin rectus meaning straight (which the human rectum is not).

Recur: To occur again. To return. Any symptom (such as fatigue), any sign (such as a heart murmur), or any disease can recur.

Replication: A turning back, repetition, duplication, reproduction.

Small intestine: The part of the digestive tract that extends from the stomach to the large intestine.

Stomach: 1. The sac-shaped digestive organ that is located in the upper abdomen, under the ribs. The upper part of the stomach connects to the esophagus, and the lower part leads into the small intestine.
See the entire definition of Stomach

Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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    • Colon Cancer
      • Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
    • Colon Polyps
      • A colon polyp is a benign tumor of the large intestine. Benign polyps do not invade nearby tissue or spread to other parts of the body. Benign polyps can easily be removed during colonoscopy and are not life threatening. If benign polyps are not removed from the large intestine, they can become malignant over time.
    • Genetic Disease
      • Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
    • Cancer Risk Factors
      • Though it's difficult to say why some people develop cancer while others don't, research shows that certain risk factors increase a person's odds of developing cancer. These risk factors include growing older, family history of cancer, diet, alcohol and tobacco use, and exposure to sunlight, ionizing radiation, certain chemicals, and some viruses and bacteria.
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      • Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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Gardner's Syndrome (Familial Adenomatous Polyposis)

What is a colon polyp?

Colon polyps are fleshy growths that occur on the inside (the lining) of the large intestine, also known as the colon. Polyps in the colon are extremely common, and their incidence increases as individuals get older. It is estimated that 50% of the people over the age of 60 will harbor at least one polyp. The significance of polyps is that we know that when certain types of polyps grow large enough, they can become cancerous, and, moreover, colon cancer is the second leading cause of death from cancer in the United Sates. Therefore, screening for colon polyps and removing them before they become cancerous should markedly reduce the incidence of colon cancer.

What types of polyps become cancerous?

The polyps that become cancerous are called adenomatous polyps or adenomas. Adenomas account for approximately 75% of all colon polyps. There are several subtypes of adenoma that differ prima...

Read the Colon Polyps article »







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