Anticipation: referring to a younger age of symptom onset or an increase in symptom severity with each generation.
Baseline: normal background level used for comparisons.
Benign: term describing a growth that is not usually recurrent and is favorable for recovery. This term is not associated with having a form of cancer.
BMPR1A: the most recently discovered gene associated with Juvenile Polyposis; located on chromosome 10.
CBC: complete blood count. This test can be helpful in identifying anemia. Chromosomes: the structures made of DNA chains that contain genes.
Colonoscopy: examination of the colon using a long flexible endoscope (camera).
de novo mutation: a sporadic (brand new) gene change that occurs by chance.
DNA: the genetic information cells need to replicate and produce instructions for growth and development.
Endoscopy: a procedure that uses a long flexible endoscope (camera) to screen internal organs.
Gastrointestinal: relating to the stomach and intestine.
Gastrointestinal Polyposis: the presence of polyps in the Gl tract.
Gene: the smallest unit of heredity; genes tell the body how to develop.
Hamartoma: benign growth of disorganized cells from normal tissue that is self-limiting (stops itself from growing once the cells have reached maturity).
Hamartomatous polyp: a benign growth of disorganized cells from normal tissue that is found on a mucosal membrane (ie: inside lining of colon; mouth, nose, etc.) These polyps have a low chance of being malignant.
Hereditary: the genetic transmission of a particular quality or trait from parent to child.
Incidence: the rate at which a certain event occurs or the number of new cases of a specific condition occurring at a certain time.
Juvenile polyp: a growth that may vary in shape and size with characteristic findings under the microscope; usually benign; associated with Juvenile Polyposis.
Karyotype: organized picture of chromosomes.
Malignant: growth that tends to become progressively worse and often invades other tissues; is related to cancer.
Pedigree: pictorial relation of a family history, see page 4.
Prophylactic tissue and organ removal (colon or stomach): surgical procedure that may be used as a method of risk reduction for cancer or to alleviate severe symptoms
PTEN: tumor suppressor gene located on chromosome 10 that when changed can result in increased risk of breast cancer, thyroid cancer, and colon cancer. This gene has also been associated with Juvenile Polyposis.
Sequencing: a detailed test that can be performed in the laboratory; detects very small changes in a gene.
SMAD4: a tumor suppressor gene that is associated with Juvenile Polyposis; located on chromosome 18.
Syndrome: set of physical features that occur together.
Tumor Suppressor Gene: a gene whose function is to monitor and control cell growth.
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