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Glossary

Advanced Beneficiary Notice of Non-Coverage (ABN) - This is a Medicare specific form for patients who do not meet Medicare criteria or for testing for which no Medicare criteria exist.

Aetna Authorization Form - This document is needed for Aetna patients with a BRACAnalysis® test order.

Ancestry and Clinical History Form - This form is used to update, clarify or add additional clinical history for a patient.

AFAP - A type of inherited colorectal cancer in which individuals usually have fewer colon polyps at a later age of onset than in classic familial adenomatous polyposis (FAP).  The American Gastroenterological Association (AGA) recommends genetic testing once a person has developed 20 or more cumulative adenomatous polyps, however AFAP has been diagnosed in patients with fewer polyps.

APC - APC is among the earliest events in the chromosomal instability (CIN) colorectal tumor pathway.  The important role of APC in predisposition to colorectal tumors is supported by the association of APC germline mutations with familial adenomatous polyposis (FAP) or attentuated familial adenomatous polyposis (AFAP).

Ashkenzai Jewish - The Eastern European Jewish population from Germany, Poland, Lithuania, Ukraine and Russia as opposed to the Sephardic Jewish population primarily from Spain, parts of France, Italy and North Africa.  The majority of Jewish individuals in the United States are of Ashkenazi descent.

Autosomal Dominant - A pattern of Mendelian inheritance whereby an affected individual possesses one copy of a mutant allele and one normal allele.  (In contrast, recessive diseases require that the individual have two copies of the mutant allele.)  Individuals with autosomal dominant diseases have a 50/50 chance of passing the mutant allele and hence the disorder onto their children.

Autosomal Recessive - Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes).

BRCA1 - A tumor suppressor gene located on chromosome 17.  When mutated the BRCA1 (BR for breast, CA for cancer) gene is one of the genes responsible for hereditary breast and ovarian cancer.

BRCA2 - A tumor suppressor gene located on chromosome 13.  When mutated the BRCA2 (BR for breast, CA for cancer) gene is one of the genes responsible for hereditary breast and ovarian cancer.

Confirmation of Test Request Form - This document is used by the ordering physician to modify or add additional testing for a patient.

CT - Computed tomography

DNA Replication - The process by which the DNA double helix unwinds and makes an exact copy of itself.

DNA Sequencing - Determining the exact order of the base pairs in a segment of DNA.

DPYD - A gene that makes the enzyme primarily responsible for metabolizing or breaking down 5-FU and clearing it from the body quickly.  If DPYD enzyme activity is compromised, 5-FU is cleared more slowly, resulting in a longer period of exposure and a subsequent increase in toxicity.  Patients with DPYD mutations have up to a 7-fold increased risk for dose-limiting toxicity from 5-FU treatment.

EPCAM (TACSTD1) - Located on chromosome 2p21, the EPCAM (epithelial cell adhesion molecule) is the gene located directly upstream of MSH2.  Large deletions in the end of the EPCAM gene result in methylation, and ultimately loss of expression, of the MSH2 gene causing Lynch syndrome (hereditary nonpolyposis colorectal cancer) through disruption of the mismatch repair function of MSH2.

ERCP - Endoscopic retrograde cholangiopancreatography

EUS - Endoscopic ultrasound

Familial Adenomatous Polyposis (FAP) - A colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning at a mean age of 16 years (range 7-36 years).  By age 35 years, 95% of individuals with FAP have polyps.  Without colectomy, colon cancer is inevitable.  The mean age of colon cancer in untreated individuals is 39 years (range 34-43 years).  Extracolonic maifestations are variably present and include polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congential hypertrophy of the retina pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors and associated cancers.

Hereditary Nonpolyposis Colon Cancer (HNPCC) - An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50.  Also called Lynch syndrome.

Informed Consent - A copy of this document is required for Medicare patients who meet Medicare criteria or as a substitute for the Informed Consent documentation requirement on the test request form.  Also available in Spanish.

MYH-Associated Polyposis (MAP) - An inherited colon cancer syndrome in which multiple adenomatous polyps form in a person's colon.  The number of polyps ranges from 2 to 1000 and these polyps may be discovered over the course of a person's lifetime.  This disease is caused by a change in the MYH gene.

Mismatch Repair Mechanism (MMR) - The DNA 'proof-reading' system controlled by certain genes that identifies, excises, and corrects errors in the pairing of the bases during DNA replication.  Mutations in the genes responsible for this mechanism can lead to certain genetic diseases and some forms of cancer.

MLH1 - Located on chromosome 3p21, the primary function of the MLH1 (mutL homolog 1) gene is mismatch repair during the DNA replication.  When mutated, the MLH1 gene is one of the genes responsible for hereditary nonpolyposis colorectal cancer.

MRI - Magnetic resonance imaging

MRCP - Magnetic resonance cholangiopancreatography

MSH2 - Located on chromosome 2p16, the primary function of the MSH2 (mutS homolog 2) gene is mismatch repair during DNA replication.  When mutated, the MSH2 gene is one of the genes responsible for hereditary nonpolyposis colorectal cancer.

MSH6 - Located on chromosome 2p16, the primary function of MSH6 (mutL homolog 6) gene is mismatch repair during DNA replication.  When mutated, the MSH6 gene is one of the genes responsible for hereditary nonpolyposis colorectal cancer.

MYH - The MYH gene (mutY homolog) carries the instructions for cells to make an enzyme that is involved in the repair of DNA.  If both copies of the MYH gene are inherited in an altered (mutated) form, they cause a hereditary cancer syndrome called MYH-associated polyposis (MAP).  People with MAP have an extremely high likelihood of developing colorectal polyps and cancer.

Myriad Financial Assistance Program (MFAP) Application - Application for MFAP program.  Also available in Spanish.

Non-Covered Services Consent Form (NCSF) - This document is required when testing is not expected to be covered by the patient's insurance policy.  This document is not needed for all insurance plans.  Please contact Customer Service should you have any specific questions at 800-469-7423.

p16 - A tumor suppressor gene that regaultes cellular proliferation and growth by acting as a cyclin-dependent kinase 4 (CDK4) inhibitor.  The p16 gene is located on chromosome 9p21.

PALB2 - A tumor suppressor gene located on chromosome 16.  The PALB2 protein partners with the BRCA2 protein to mend broken strands of DNA in a process called DNA repair.  PALB2 mutations can increase the risk of pancreatic and breast cancer.

PMS2 - Located on chromosome 7p22.2, the primary function of the PMS2 (postmeiotic segregation increased 2) is mismatch repair during the DNA replication.  When mutated, the PMS2 gene is one of the genes responsible for Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Previvor - "Cancer previvors" are individuals who are survivors of a predisposition to cancer but who haven’t had the disease. This group includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor. The medical community uses the term "unaffected carrier" to describe those who have not had cancer but have a BRCA or other cancer-predisposing mutation. Although cancer previvors face some of the same fears as cancer survivors, undergoing similar tests and confronting similar medical management issues, they face a unique set of emotional, medical, and privacy concerns.

Request for Deceased Patient Results - This form allows providers to request results on deceased patients.

Request for Results of a Previously Tested Relative - This document allows previously tested relatives to release results to an alternate Healthcare Provider for the purpose of testing additional family members.

Results to Alternate or Additional Healthcare Provider Requests - This document allows the patient to forward results to an additional provider, permanently change the name of the provider, or authorize a provider to add or cancel testing.

Return Sample Request Form - This document allows us to send remaining DNA to another facility or DNA banking facility.  Please note that in addition to this form, a $50.00 fee is required.

Sample Destruction Request Form - This document allows is for patients who do not want Myriad to retain their DNA for the usual 60 day time period after test release or cancellation.

Serum CA-125 - A blood test that measures the level of CA-125, a substance found in blood, other body fluids and some tissues.  Increased levels of CA-125 may be a sign of ovarian cancer.

Substitute Insurance Billing Information/Signature Form - This form can be used if the patient's signature is missing on the original test request form.  This form is also used to confirm insurance policy information.  Also available in Spanish.

Test Request Form (TRF) - This form should only be used when an original test request form is not available.  If this form is used, please make sure the patient specimen is clearly labeled with the patient's name and date of birth.  Each type of test has a unique TRF specific to that test.  Please contact Customer Service if you need a test kit.

Tumor Suppressor Gene - A protective gene that normally limits the growth of tumors.  When a tumor suppressor gene is mutated, it may fail to keep a cancer from grwoing.  BRCA1 and BRCA2 are tumor suppressor genes.

TYMS - An essential enzyme for DNA synthesis.  If a genetic variation causes underproduction of TYMS, only a portion of the 5-FU dose binds to and inhibits this enzyme; the rest remains unbound in the body, resulting in increased toxicity.  Patients with variations in the TYMS gene have up to a 1.4- to 2.5-fold increased risk for dose-limiting toxicity from 5-FU.

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