Genetic Risk Terminology Decoded

23 Aug 2021

At Pink Hope, we know that discovering you, or a family member, is or may be, at an increased risk of developing cancer is hard enough to deal with, but we also know that you and your family will quickly find yourself hearing, and needing to understand, terms, words and acronyms that are often confusing and occasionally intimidating. 

To assist you while you are guided to make decisions concerning genetic testing, understanding your risk and preventative options, we’ve decoded several of the most common terms and words to lessen the cognitive overload. 

BRCA1 and BRCA2 Gene Faults/Mutations - Women with a fault, or mutation, in one of these genes have a higher than normal chance of developing breast and ovarian cancer. 

Genetic Counseling - A counseling process between a specially trained health professional (a genetic counselor) when there is concern about genetic risk of cancer. 

Genetic Testing - The analysis of DNA to see if a person has certain gene changes that may indicate an increased risk for developing a specific disease or disorder. 

Germ Cells - Cells that produce eggs in females and sperm in males. Germ cell cancers can occur in the ovaries or testicles. 

Germline Testing Is carried out on cells that do not have cancer. It is done to see if a person has a gene mutation that is known to increase the risk of developing cancers and other health problems. This test uses cells (such as blood or skin cells) that do not have any cancer cells. Germline mutations can sometimes be passed down from parents. 

Gynecologic Cancer - Cancer of the female reproductive tract, including the ovaries, cervix, endometrium, fallopian tubes, uterus, and vagina. 

Prophylactic Oophorectomy – Surgery to remove both your ovaries to reduce the risk of developing breast and ovarian cancer if you are at an increased risk. 

Prophylactic (Preventative) Mastectomy - Surgery to remove one or both breasts to reduce the risk of developing breast cancer. 

Screening An organised program (using tests, examinations, or other procedures) to identify disease such as cancer, or changes that may later develop into disease such as cancer, before symptoms appear. Screening can only be done if there is a reliable and simple test for the disease, such as the cervical smear test or mammogram. 

Tamoxifen -hormone therapy drug that blocks the effects of oestrogen in cancer cells may also be suggested to a high risk woman to lower the risk of developing breast cancer. 

Tumour Testing (Somatic Testing) - Tumour or Somatic testing is usually done after a person has been diagnosed with cancer and looks for genetic mutations in tumor or cancer cells. Usually, mutations in cancer cells are only in those cellsnot in the rest of the cells of the body. These tests are not intended to give information about cancer risk passed down from a parent (inherited).