Glossary

adenomatous
(a-den-oh-mah-tus)
Relates to an adenoma which is a benign growth of tissue. In FAP adenomatous polyps occur in the colon and may become malignant over time.

anastomosis
(a-nas-ta-moh-sis)
The joining together of two tubes, such as two cut ends of the bowel

anus
(ay-nuss)
The back passage. The opening of the bowel through which bowel motions are passed.

APC gene
The name given to the gene which, when mutated, causes FAP. Normally, this gene 'APC' stands for adenomatous polyposis coli.

chromosome
A thread like structure found in the nucleus of all body cells (except red blood cells) made up of strings of proteins called genes.

colectomy
(co-lek-to-mee)
The surgical removal of the colon.

colon
(co-lon)
The part of the large bowel between the end of the small intestine (the ileum, part of the small bowel) and the rectum. It is about 1.5 metres long.

colonoscopy
(coe-lon-oss-cop-ee)
Examination of the large bowel using a colonoscope. This is a thin flexible tube with a light at the end. It is passed through the anus and gently moved around so that the doctor can see the full length of the large bowel.

desmoid tumour
A mass of fibrous tissue

duodenum
(dyoo-e-dee-nem)
The first 30 centimetres of the small bowel. The stomach empties into the duodenum.

endometrial
(endo-meet-ree-al)
The inner lining of the uterus or womb.

endometrial sampling
Taking a biopsy or sample of the lining of the uterus to test for cancer or other conditions.

endoscopy
(end-oss-copp-ee)
Examination of the upper part of the gut using an endoscope. This is a thin flexible tube like the colonoscope and enables the doctor to see the lining of the oesophagus, stomach and duodenum

familial
(fa-mi-lee ul)
Indicates that a condition can be inherited through the generations of a family through one or more genes. Also ‘hereditary’.

faeces
(fee-seez)
Bowel motions; waste matter passed from the gut via the anus (back passage).

gene
The elements of a cell that carry instructions on how the cell should grow and function. Each person has a set of many thousands of genes inherited from both parents. This set is found in every cell of the body.

faecal occult blood test (FOBT)
A test for tiny amounts of blood in a person's bowel motion.

HNPCC family
A group of relatives in which it is known, or strongly suspected, that an HNPCC gene mutation is present, based on their extensive family history of bowel and perhaps other cancers.

hysterectomy
(hist-or-ect-amee)
Surgical removal of the uterus and the cervix.

ileorectal anastomosis
(il-ee-o-rec-tul a-nas-ta-moh-sis)
Surgery where the colon is removed and the end of the ileum is joined up to the rectum.

ileum
(il-ee-em)
The lower half of the small bowel, which joins up with the colon.

jejunum
(je-joo-nem)
The part of the small bowel below the duodenum and leading into the ileum.

Lynch syndrome
An alternative term for HNPCC.

malignant
(ma-lig-nant)
Cancerous. A malignant tumour is a cancer. It can spread and eventually cause death if it is not treated.

MMR genes
Mis Match Repair genes. Genes which instruct the cell on how to repair changes and which, when a mutation is present, results in HNPCC.

MSI
Microsatellite Instability, a test for a genetic pattern that is sometimes found in bowel cancer cells.

mutation
(myoo-tay-shen)
A change in a gene causing it to show a new characteristic.

oöphorectomy
(o-o-for rect-om-ee)
Surgical removal of the ovaries.

polyp
(pol-ip)
An abnormal growth or adenoma often on a stalk.

polyposis
(poly-poh-sis)
The condition of having large numbers of polyps in the large bowel.

rectum
(rec-tum)
The last 12-15 centimetres of the large bowel, which opens to the outside at the anus. The faeces collect in the rectum before they are passed as a bowel motion.

sigmoid colon
(sig-moid co-lon)
The last 20-25 centimetres of the colon, which leads into the rectum.

sigmoidoscopy
(sig-moyd-oss-cop-ee)
Examination of the rectum and sigmoid colon using a sigmoidoscope. This is a narrow lighted tube. It is inserted gently through the anus, and gives a view of the lining of the bowel.

transvaginal ultrasonography
(trans-vaj-y nal ultra-son-og-rafee)
An examination on which an ultrasound instrument is inserted into the vagina to give a clear picture of the inside of the uterus and the ovaries.

For more information on Cancer Genetics and hereditary cancer, please visit CI-SCaT and click on the patients & carers tab.

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