DNA Direct: Your Genes in Context

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Testing for Genetic Disorders

Related Genetic Tests

Breast & Ovarian Cancer Risk

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BREAST & OVARIAN CANCER RISK

Glossary: Breast and Ovarian Cancer

AFAP: Attenuated FAP (AFAP) is a form of FAP characterized by a less dramatic proliferation of polyps (between 20-99 cumulative polyps) and age of onset for colorectal cancer of approximately 50 years. Polyps generally localize to the proximal (right-sided) colon. The American Gastroenterological Association (AGA) recommends genetic testing once a person has developed 20 or more cumulative polyps.

APC: A gene mutation associated with Familial Adenomatous Polyposis (FAP) and Attenuated FAP.

Autosomal Dominant Pattern: A pattern of inheritance that requires only one affected parent to have the trait in order to pass it to their offspring.

Ashkenazi: Ancestry traced back to the Jewish communities of Eastern Europe.

BRCA1: A gene located on chromosome 17 that normally produces a protein that normally helps to restrain cell growth.

BRCA2: A gene located on chromosome 13 that normally produces a protein that normally helps to restrain cell growth.

BRCA1 or BRCA 2 Mutation: A harmful change in a BRCA1 or BRCA2 gene that predisposes a person toward developing breast and/or ovarian cancer.

Chemoprevention: The administration of any chemical or drug to treat a disease or condition and limit its further progress, or to prevent the condition from ever occurring.

CHRPE: Congenital Hypertrophy of Retinal Pigmented Epithelium - a benign eye abnormality common in those with FAP.

Colectomy: The surgical removal of the colon. A total colectomy is the surgical removal of the colon and rectum. A subtotal colectomy is the surgical removal of the colon or portions of the colon only (not rectum).

Colonoscopy: Procedure that involves gradually advancing a flexible fiber-optic telescope attached to a television monitor through the entire colon. The colonoscope is similar to the flexible sigmoidoscope, though it's several feet longer. It allows the doctor performing the procedure to directly see the inner lining of the entire colon. Colonoscopy is the most effective way to evaluate the inside of your entire colon for the presence of colorectal cancer or polyps.

De novo mutation: A mutation that is not based on family history but occurs when a gene is damaged at conception. A de novo mutation can also then be passed on to one's children.

Desmoid Tumors: Fibrous growth identified generally in the abdominal area associated with FAP and AFAP.

DNA: Deoxyribonucleic acid, the chemical basis of heredity.

DNA Replication: The duplication process of genetic material.

FAP: Familial Adenomatous Polyposis. An inherited condition resulting in the formation of thousands of polyps within the colon, often before age 20.

Flexible Sigmoidoscopy: Procedure using a lighted scope to examine the sigmoid colon (left side) and rectum; Ability to see 40-50% of the colon.

Gene: The basic unit of heredity, made of DNA.

Gene Sequencing: A genetic test, considered the gold standard for identifying genetic changes known as mutations.

Genetic Counseling: Genetic counseling is a process in which a genetic counselor educates families or individuals about their risk of passing on a genetic predisposition for certain disorders or of having inherited a disorder themselves.

Genetic Counselor: Genetic counselors have specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from any of a variety of disciplines, including biology, genetics, nursing, psychology, public health or social work.

Genetic Discrimination: Treatment or consideration based on genetic status or category rather than individual merit or actual conditions.

Hereditary: Transmitted or capable of being transmitted from parent to child.

Hereditary Genetic Mutation: An inherited mutation within a gene that greatly increases the probability of cancer.

HNPCC: Hereditary nonpolyposis colorectal cancer, an inherited colorectal cancer syndrome.

HNPCC-Related Cancers: Other primary cancers included in an inherited cancer syndrome because of the increased prevalence in syndrome carriers. In addition to colon cancer, HNPCC-related cancers include cancer of the endometrium, ovary, stomach, kidney/urinary tract, brain, biliary tract, central nervous system and small bowel.

MLH1: A gene change (mutation) associated with the hereditary form of colon cancer (HNPCC) located on chromosome 3.

MSH2: A gene change (mutation) associated with the hereditary form of colon cancer (HNPCC) located on chromosome 2.

MLH1 or MSH2 Mutation: A harmful change in any MMR gene that leads to the accumulation of mutations in a cell, greatly increasing the probability of cancer.

MMR: Mismatch repair gene, a gene that functions as a part of the "spell check" system of a cell. Mutations in MMR genes are involved in causing some hereditary cancer syndromes.

Mutation: A change or alteration in a gene which may cause it to lose normal function. Mutations can be passed on to children along with other genetic traits.

Osteomas: Benign, bony tumors often on the skull or mandible (sometimes a clinical finding with FAP patients).

Pre-symptomatic: The stage prior to an individual presenting with symptoms that are clinically relevant to the disease in question.

Prophylactic Bilateral Mastectomy: A risk-reducing treatment where both breasts, as well as some of the surrounding tissue, are surgically removed in order to keep cancerous cells from forming.

Prophylactic Bilateral Oophorectomy: A risk-reducing treatment where ovaries are surgically removed in order to keep cancerous cells from forming; recommended after childbearing is complete.

Related Cancers: Other primary cancers included in an inherited cancer syndrome because of the increased prevalence in syndrome carriers.

Selective Estrogen Receptor Modulator (SERM): A hormone-like drug that affects multiple tissues by interacting with receptors for the hormone estrogen. A particular SERM may have estrogen-like effects in some tissues and anti-estrogen effects in others.

Serum CA-125: A blood test used in an effort to detect ovarian cancer.

Siblings: Brothers and/or sisters.

Sporadic: In reference to cancer, this means a cancer not caused by hereditary genetic mutations. Most cancers are sporadic.

Transvaginal Ultrasound (TVU or TVUS): A method similar to the use of ultrasound during pregnancy, transvaginal ultrasound uses sound waves to image the female genital tract. May be used to screen for endometrial or ovarian cancer.