a
- AdenomaA precancerous polyp that is a gland-like growth on the mucous membrane that can have a growth pattern of tubular (protrudes), villous (flat and spreading), or a mix of the two called tubulovillous.
- Advanced HistologySpecific cellular features that indicate cancer or higher risk of progression to cancer.
- Amino AcidCompounds forming proteins that support the body's biological processes.
- Ampulla A duct connecting to the duodenum. It also serves as a junction of the biliary and pancreatic ducts and digestive tracts. The ampulla is also often referred to as the ampulla of vater.
- AnusAt the end of the rectum, the anus is the opening where the gastrointestinal (GI) tract ends and exits the body.
- APC Gene APC Gene definition: A tumor suppressor gene located on chromosome 5
- APC ProteinA protein expressed by the APC gene serving as a tumor suppressor regulating cell behavior.
- APCA protein expressed by the APC gene serving as a tumor suppressor regulating cell behavior.
- Attenuated FAP (AFAP)A variant of familial adenomatous polyposis characterized by an increased risk for colorectal cancer but with fewer polyps (average of 30) and later age of onset of polyps and cancer than is typically seen in FAP. Extra-colonic manifestations are also associated with attenuated FAP.
- Autosomal Dominant InheritanceA trait or genetic disorder that is inherited from a gene that is on a non-sex chromosome and only requires a single copy of the gene from one parent for the trait to occur. In contrast, Autosomal Recessive Inheritance requires two copies of the gene, one from both parents, for the trait or(...)
b
- Beta-cateninA protein that primarily holds cells together and serves as a messenger controlling gene activity through the Wnt pathway by telling genes when to turn on for cell growth, division, and differentiation.
c
- CancerA disease in which abnormal cells divide uncontrollably and do not die. These abnormal cells destroy body tissue and may make tumors. Most types of cancer have 4 stages. Some cancers also have a stage 0. Cancer stages are determined by considering the size and location of tumors, lymph nodes(...)
- Capsule EndoscopySmall capsule equipped with a camera is swallowed and an external device for receiving the images is worn by the patient during the procedure. After the capsule has traveled through the GI tract and exited the body, the patient returns the recording device to their medical provider for review.
- Cellular ProliferationThe increase in cells by growth and division. Uncontrolled proliferation is an indicator for cancer as damaged cells ignore stop signals and continue to multiply leading to tumor formation and invading other tissues.
- ChemopreventionMedication, vitamin, or supplement that is used to lower the risk of developing cancer or cancer recurrence.
- ChemotherapyMedicine used to treat cancer to stop the growth of cancer cells. Chemo treatments may be given by mouth, injection, infusion, or on the skin depending on the type and stage of the cancer being treated.
- ChromosomeThe DNA molecule within the nucleus of each cell.
- CHRPE Flat, darkly pigmented spot in the back of the eye. They are benign and typically do not cause any issues, sometimes referred to as a freckle or bear track.
- CodonLocated within an exon, it codes for making a single amino acid.
- ColectomyRemoval of the colon. A total colectomy is the removal of the entire colon whereas a partial colectomy is the removal of only part of the colon.
- ColonLocated between the small intestine and rectum. The colon removes water, salt, and some nutrients thereby creating stool. The ascending colon travels up the right side of the abdomen, the transverse colon runs across the abdomen, the descending colon travels down the left abdomen and the(...)
- ColonoscopyAn endoscopy procedure using a flexible tube with a camera to view the rectum and colon. Often referred to as a lower scope in layman's terms.
d
- De Novo MutationA genetic mutation in an individual with no family history of the disease.
- DemethylationDecreased methylation that can turn on a gene.
- Dental TumorComposed of dental tissue that grows in an irregular way, generally benign.
- Desmoid TumorA rare disease that is common among those with Familial Adenomatous Polyposis that creates noncancerous growth in the connective tissues that provide strength and flexibility to structures such as bones, ligaments, and muscles. These tumors can develop anywhere in the body although most often(...)
- DNA The molecule that carries genetic instructions for the development, function, and reproduction of an organism in humans and almost all organisms. It is structured as a double helix made up of sugar, phosphate, and four chemical bases (Adenine, Thymine, Guanine, Cytosine). These four chemicals(...)
- DuodenectomyRemoval of all or part of the duodenum.
- DuodenumThe first part of the small intestine immediately beyond the stomach located between the stomach and the middle part of the small intestine. Food mixes in the duodenum with bile from the gall bladder and digestive juices from the pancreas.
- DysplasiaAn abnormality in the cells of a tissue or organ. Dysplasia can be mild, moderate, or severe and is often described in a pathology report as low grade or high grade. Low grade dysplasia is mild abnormal changes whereas high grade is severe showing a higher number of abnormal cells and is(...)
e
- EndoscopyA procedure using a flexible tube with a camera that is inserted into the body to view internal body parts for diagnosis and biopsies.
- EnzymeProteins that power and cause essential biochemical reactions to occur faster within living organisms to sustain life without being consumed, meaning these enzymes are reusable with decreased energy spent for their key functions.
- Epidermoid CystTypically benign, slow growing bump under the skin that may contain fluid, air, or other substances.
- EpitheliumEpithelial tissue that lines all internal and external surfaces of the body, serving as a protective layer.
- EsophagogastroduodenoscopyAn endoscopy procedure using a flexible tube with a camera to view the esophagus, stomach, and duodenum. Often referred to as an upper scope in layman's terms.
- EGDAn endoscopy procedure using a flexible tube with a camera to view the esophagus, stomach, and duodenum. Often referred to as an upper scope in layman's terms.
- ExonA coding region in a gene's structure for making a protein.
- Extracolonic ManifestationsOften present in FAP, including polyps of the stomach, duodenum and small intestine; and osteomas, dental abnormalities (supernumerary teeth, dental tumors, hypodontia, and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), and soft tissue tumors including epidermoid(...)
f
- Familial Adenomatous Polyposis (FAP)A rare inherited cancer syndrome characterized by hundreds to thousands of precancerous colorectal polyps. If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. The standard treatment for FAP is colon removal with an ileostomy(...)
- FibromaBenign tumors composed of fibrous or connective tissue; they may grow in all organs.
- Fundic Gland Polyps Polyps that develop in the fundus area of the stomach, located in the uppermost section of the stomach
g
- Gastric Fundic PolypsPolyps that grow in the lining of the stomach; they are benign and generally considered not a cancer risk. However, while not precancerous, there are cases in FAP that they have become cancerous.
- GeneAn individual section of chromosomes made up of sections of DNA. Genes can either control other genes or act to instruct the body how to make molecules.
- GenotypeAn individual's unique DNA sequence or genetic code.
- Germline MutationA genetic mutation present in the reproductive cells (sperm or egg) that is copied in all cells of the body.
- GI TractThe gastrointestinal tract consists of the mouth, esophagus, stomach, small intestine, large intestine (colon), and anus.
h
- HepatoblastomaA type of liver cancer most common in children under 5 rather than older ages.
- HistologyStudy of cells and tissues under the microscope to diagnose cancer, determine type, grade, and guide treatment.
- HypodontiaAbsence of some permanent teeth from birth.
i
- IleostomyAlso called a standard or Brooke ileostomy, a surgically created opening between the small intestine and the abdominal surface. Stool output is liquid or paste like with digestive enzymes. An end ileostomy is where the end of the ileum of the small intestine is used to create the stoma whereas(...)
- IleumThe last part of the small intestine.
- Immunohistochemistry Test (IHC)Pathology test using antibodies to detect antigens, or substances in the body, that may indicate disease from a tissue biopsy. It is used for diagnosis, predicting treatment response, and determining prognosis of a disease.
- IRA Also known as an ileorectal anastomosis that joins the ileum, or last part of the small intestine, to the rectum from colon removal.
j
- J-PouchAlso known as an ileal pouch-anal anastomosis (IPAA), a reservoir created from the distal small intestine that is joined to the anal canal. In standard J-pouch procedures, the rectal cuff is preserved and the J-pouch is sewn to it. Sometimes this may also be called an S-pouch or W-pouch(...)
i
- IPAAAlso known as an ileal pouch-anal anastomosis (IPAA), a reservoir created from the distal small intestine that is joined to the anal canal. In standard J-pouch procedures, the rectal cuff is preserved and the J-pouch is sewn to it. Sometimes this may also be called an S-pouch or W-pouch(...)
j
- Jejunum The middle part of the small intestine, situated between the duodenum and ileum.
l
- LipomaA benign tumor made of fatty tissue, generally benign.
m
- Major Duodenal Papilla Where the ducts entering the duodenum meet. It is also controlled by the sphincter of Oddi
- MethylationOccurs when the methyl (CH3) group is added to DNA; this modifies the gene's function by how the gene is expressed. With increased methylation, a gene can be turned off or silenced.
- Mosaic FAPA germline mosaicism mutation where the APC mutation has been found to only affect a subset of cells in specific organs rather than in every cell of the body.
- MutationA permanent change in a DNA sequence that alters a gene's instructions. These can be harmful, neutral, or beneficial depending on the change.
o
- OdontomaBenign tumor composed of dental tissue that has grown in an irregular way.
- OsteomaBenign bone tumors typically formed on the skull.
- OstomyA surgically created opening in the body allowing air or waste to pass.
p
- Pancreas-Preserving DuodenectomyAlso known as a pancreas-sparing duodenectomy, similar to the Whipple but spares the pancreas from any part of it being removed.
- PPrDAlso known as a pancreas-sparing duodenectomy, similar to the Whipple but spares the pancreas from any part of it being removed.
- PhenotypeObservable expression of the genes inherited; the physical manifestation of the individual's genotype.
- PolypAbnormal tissue growths most commonly found in the colon but can develop elsewhere in the body.
- PolyposisHigh number of polyps.
- PPI Proton Pump Inhibitors - a class of medications used to reduce stomach acid. Common PPIs include Prilosec, Nexium, Prevacid, Protonix, etc.
- ProctectomySurgical procedure to remove the rectum.
- ProctocolectomyRemoval of the rectum and all or part of the colon. When this procedure involves sewing closed the anus, common with permanent ileostomies, it is often referred to as a "Barbie Butt" or "Ken Butt".
- ProteinMade from a string of amino acids, a protein creates structure, function, and regulation of the body's cells.
r
- RadiationA cancer treatment using high doses of radiation to kill cancer cells, shrink tumors, and can help reduce bothersome symptoms.
- ReceptorSpecialized protein, typically on a cell's surface or within the cell, that receives signals for a cell causing specific actions within the cell to be triggered.
- RectumThe final, or terminal, straight portion of the colon connecting to the anus.
- RNA A macromolecule that primarily functions as a messenger carrying genetic instructions from DNA to make proteins but also contributes to gene regulation, shaping chromatin structure in chromosomes, and cellular defenses. There are different types of RNA, each one serving a different role. It(...)
s
- Small IntestineLocated between the stomach and large intestine. The small intestine is made up of the duodenum, jejunum and the ileum. The small intestine absorbs nutrients and minerals from food and receives bile and pancreatic juice through the pancreatic duct.
- sphincter of Oddi A valve that controls the flow of bile and pancreatic juice into the duodenum
- StomaA surgically created opening in the abdomen surface constructed of intestinal tissue for an ostomy. Stool or urine leaves the body through this opening instead of the anus or urethra.
- Straight Pull ThroughAlso known as an ileoanal anastomosis, is when the ileum is connected directly to the anus without a J-pouch.
- Sub-colectomyThe majority of the colon is removed but not all, usually the sigmoid colon is not removed in this surgery.
- Supernumerary TeethDevelopment of extra teeth.
t
- TumorAn abnormal mass of tissue formed when cells grow and divide uncontrollably. Malignant tumors are cancerous and may spread into other parts of the body. Benign tumors are not cancerous and do not spread into other parts of the body.
w
- WhipplePancreaticoduodenectomy is a surgery involving removing the pancreatic head, duodenum, gallbladder, and part of the bile duct. This is sometimes required with FAP to prevent additional cancers.
