Glossary

 

Adenoma- A benign polyp that may be pre cancerous.

 

AmsterdamCriteria:  Guidelines to determine who should be referred for Lynch syndrome genetic testing.

 

Anus- Outlet of the rectum.

 

At risk- A person at risk has the possibility of having Lynch syndrome due to family history, however has not been tested.

 

Autosomal dominant- A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of chromosomes.  Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children.

 

Barium enema- Chalky liquid, resistant to x-rays, inserted into the large intestine which allows the operator to view the interior of the bowel and detect anything unusual.

 

Base Pair - two nucleotides on opposite complementary DNA or RNA strands which  are connected via hydrogen bonds (the center matter connecting each strand of a double helix together into one strand.)

 

Benign- Not cancerous

 

Bethesda Criteria:  Guidelines to determine who should submit to Lynch syndrome genetic testing and MSI testing.

 

Biopsy- Removal of tissue for examination under a microscope.

 

CA-125 - A blood test that assesses the concentration of CA-125, an antigen found in ovarian cancer.

 

CAT scan- (Computerized Axial Tomography) - a form of x-ray that shows the size and shape of body organs layer by layer.

 

Cecum- The first section of the large intestine (colon).

 

Chemotherapy Neuropathy - nerve damage primarily in the hands, feet, arms and legs, resulting from chemotherapy.

 

Chromosome- Contains the genetic material of a cell (genes). The normal number of chromosomes in a human cell is 46 (23 pairs).

 

CIPN:Chemotherapy Induced Peripheral Neuropathy  (See Chemotherapy Neuropathy)

 

Codon:  Three adjacent bases on a DNA molecule determines the position of a specific amino acid protein molecule during protein synthesis.

 

Colectomy- The surgical removal of the colon (large intestine).


Colon - (Large intestine, large bowel), About five to six feet long, it comprises the last section of the colon and includes the cecum, ascending colon, transverse colon, descending colon and sigmoid colon.

 

Colonoscopy-  Also known as "scope," it is an examination of the inside of the entire colon by use of a  flexible tube, about five feet in length.  The tube has a light source, a magnifying eye glass and an open channel through which air can be passed and biopsies can be taken.

 

DNA- (Deoxyribonucleic Acid). The molecule that contains the code for the genetic blueprint. It is found in the nucleus of cells.


Duodenum - The first part of the small intestine, about twelve to fifteen inches long.

 

Endometrial Aspirate - Extraction of tissue from the uterine lining, by suction, for examination.

 

Endometrium- The mucousy membrane composing the inner layer of the uterine wall.

 

Epcam Deletion:  On chromosome 2, the EPCAM gene lies next to the MSH2 gene. Each gene provides instructions for making protein.  The EPCAM gene causes the MSH2 gene to be turned off, by a mechanism called promoter hypermethylation. It causes too many methyl groups to be attached in the promoter region and they attach to the MSH2 gene, resulting in less protein produced in epithelial cells. Loss of this protein results in loss of DNA repair.  

 

Esophagogastroduodenoscopy (EGD, Upper Endoscopy)- Examination by use of a flexible tube passed through the interior of the upper GI tract (esophagus, stomach, and duodenum). The tube has a light source, a magnifying eye glass, and an open channel through which a biopsy can be taken.

 

ET- Enterostomal Therapist; a specialist, often a nurse, who assists individuals who wear an external abdominal appliance to collect body waste.

 

Familial Cancer -   Cancer that occurs in families more often than would be expected by chance. These cancers often occur at an early age, and may indicate the presence of a gene mutation that increases the risk of cancer. They may also be a sign of shared environmental or lifestyle factors.

 

FAP (Familial adenomatous polyposis)- An inherited disorder of the gastrointestinal tract in which there are 100 or more pre cancerous polyps.

 

Flexible sigmoidoscopy- A test in which a flexible tube about 2 1/2 feet in length is used to examine the rectum and lower part of the large bowel. The tube has a light source, a magnifying eyepiece, and an open channel through which air can be passed and a biopsy taken.

 

FOBT Test: Fecal Occult Blood Test is a non-invasive "at home" test, used to detect hidden blood in the stool and often utilized for colon cancer screening.

 

Gastroenterologist - A physician who specializes in the gastrointestinal tract.

 

GI (gastrointestinal) tract- Consists of the esophagus, stomach, small intestine (22-25 feet in length), and large intestine (5-6 feet in length).

 

Gene- A basic unit of heredity with each occupying a certain, specific place on a chromosome.

 

Genetic Testing - A blood test assessed by a lab to determine if certain Lynch syndrome mutations exist.

 

Geneticist-  A physician who specializes in genetics.

 

Germline Mutation- Same as hereditary mutation, called germline because hereditary mutations come egg and sperm cells, which are also called germ cells.

 

Glioblastoma- A type of primary malignant brain tumor sometimes associated with Lynch syndrome.

 

Gynecolgist- A physician that specializes in women's cancers.

 

Hemoccult test- A test using specially treated cardboard slides to check for hidden blood in the stool.

 

Hereditary- Genetically transmitted from parent to children.

 

hMLH1, hMSH2, hPMS1, hPMS2- The abbreviated names of some of the more known genes that, when abnormal, cause HNPCC. They are located on chromosomes 2, 3, and 7.

 

HNPCC(Hereditary Nonpolyposis Colorectal Cancer) -  The name of a genetic condition which encompasses Lynch syndrome AND Familial Colorectal Cancer Type X, a familial hereditary cancer condition.

 

Hysterectomy- Surgical removal of the uterus.

 

IHC Testing - (See Immunohistochemistry)

 

Ileoanal pull-through (pelvic pouch procedure, ileoanal anastomosis procedure)- Removal of  the colon and the lining of the rectum, leaving the underlying anal muscles, or sphincters. The last part of the small intestine is joined to the anus and an internal pelvic pouch is created.

 

Ileorectal anastomosis- Removal of the colon and joining of the last part of the small intestine (ileum) to the rectum.

 

Ileostomy (proctocolectomy)- Removal of the colon, rectum, and anus. An opening is then made from the ileum through the abdominal wall.

 

Ileum- The last part of the small intestine, 12-15 feet long.

 

Immunohistochemistry- Also known as IHC.  Pathology test of tumor involving staining tumor tissue samples to determine the presence or the absence of certain proteins which may reveal which mutated genes caused the cancer.

 

Inflammation - Chronic inflammation can trigger the immune system to battle against a persistent infection or bacterium and can contribute to the development of cancer.

 

Jejunum- The middle part of the small intestine, 8-10 feet long.

 

Karyotype- A picture of the chromosomes.

 

Keratoacanthoma- False skin cancer, appearing like a little volcano

 

LSI- Abbreviation for Lynch Syndrome International

 

Lynch Syndrome I & II- Another name for the inherited condition, HNPCC.

 

Malignant - Cancerous

 

Marker- A physical abnormality that may indicate the presence of, or may predict the future occurrence of a specific disorder in an individual.

 

Metastasis- Spread of cancer by the lymphatics or bloodstream to other sites in the body.

 

Microsatellite: Strand of DNA consisting of a sequence of repetitions of one to six base pairs in length.

 

Microsatellite Instability -  Condition created by damaged DNA due to defects in the normal DNA repair process.

 

MisMatch Repair Gene - Genes that contain mismatch repair proteins that check for and repair mistakes made in the production of new DNA.  When a mismatch repair gene becomes altered, as in Lynch syndrome, it ceases to make proteins or ceases to work properly, allowing cancers to develop.

 

Missense Mutation:  A missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. This can render the resulting protein nonfunctional.

 

MMR- Mismatch Repair

 

MRI- A procedure in which radio waves and a powerful magnet linked to a computer is used to create detailed pictures of areas inside the body. These pictures can show the difference between normal and diseased tissue.

 

MSI- Pathology test of a tumor to determine if instability or other qualities of Lynch syndrome exist.

 

Muir Torre - A rare inherited skin disorder associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to cancer malignancies.

 

Mutation- A change in a gene which may result in a specific disorder.

 

Non-Invasive-  A procedure in which nothing enters the body (i.e., saliva DNA testing)

 

Nonsense Mutation: a genetic mutation in a DNA sequence that results in a shorter, unfinished protein product which occurs when a premature nonsense or stop codon is introduced into the DNA sequence. When it is translated into protein, the protein is incomplete short of the normal therefore, most of these mutations resulted in nonfunctional proteins.

 

Oncologist – A physician who specializes in treating cancers

 

Ostomate- A person with an ileostomy (or colostomy).

 

Palliative Care - Medical or comfort care that reduces the severity of a disease or slows its progress rather than providing a cure, i.e.,  if surgery cannot be performed to remove a tumor, radiation treatment might be tried to reduce its rate of growth, and pain management could help the patient manage physical symptoms.

 

Pathologist: A physician who examines tissues and fluids to diagnose disease to assist in making treatment decisions

 

Pedigree- family tree; genealogy.

 

Polyp- nonmalignant growth of tissue protruding from the mucous lining of an organ such as the nose, bladder, or intestine. Also called polypus

 

Polyposis- See FAP above.

 

Port - implanted device, below the skin, allowing a catheter to be attached to infuse medicines and fluids such as chemotherapy into the body and to allow blood to be drawn out.

 

Previvor- An individual diagnosed with Lynch syndrome but whom has not contracted a cancer.

 

Primary Brain Tumor -   tumor that originates in the brain or spinal cord tissue rather than spreading to the brain from another part of the body.

 

Proband:  First individual identified in a family that has a specific hereditary disorder.

 

Prophylactic:  A preventative measure

 

Propositus/Proposita- (Proband; Index case). The first individual to be identified in a family that has a specific hereditary disorder.

 

Sarcoma - tumor of the soft tissue or bone

 

Sebaceous Adenomas- Non cancerous skin tumor of an oil producing gland

 

Sebaceous Carcinoma - Cancerous skin tumor of an oil producing gland

 

Sebaceous Epithelioma - A benign tumor of the epitheliom of the sebaceous gland containing basal or germinal cells.  

 

Salpingo-oophorectomy- Removal of the ovary and its Fallopian tube.

 

Sporadic Cancer:  Cancer occurring in people with no family history and no inherited cause.

 

Staging- Levels of cancer advancement in the body.

 

Stoma- Artificially created opening in the abdomen.

 

Surveillance - Regularly scheduled tests to detect cancer

 

Survivor- Individual diagnosed with Lynch cancer and has contracted a Lynchcancer.

 

Syndrome- A collection of abnormal physical characteristics occurring in an individual

 

Transvaginal Ultrasound - High-resolution images of the uterus and ovaries; may be used to screen for endometrial or ovarian cancer

 

Urine Cytology - Examination of the urine to detect cancer and inflammatory disease in the urinary tract.

 

Urologist- A physician who specializes in the urinary tract.

 

VUS - A variant of uncertain significance (VUS) is a genetic sequence change which association with hereditary risk is currently unknown.  Persons with a VUS should be managed as though they have Lynch syndrome.