Why are some diseases linked to genetics?

The genes that may be useful to test using our gene panel

11 genes are known to be closely linked to three rare diseases included in our panel. Genetic variants in these genes are all tested together. This type of test is called a gene panel. Only these genes are tested, you will not receive any information relating to other genes. These genes are called BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, LDLR, APOB, PCSK9, and LDLRAP1.

Hereditary Breast and Ovarian Cancer Syndrome: BRCA1 and BRCA2

• Women and men who have certain genetic mutations on the BRCA1 and BRCA2 genes have an increased risk of developing breast cancer compared with the general population. 

• Women also have an increased risk of ovarian cancer. 

• Men have an increased risk of developing high-grade prostate cancer. 

• Both men and women with these genes are more likely to get pancreatic cancer.

• You and your family members are more likely to have a BRCA1 or BRCA2 mutation if your family has a strong history of breast or ovarian cancer at a younger age. [1]

What does it mean if I have one of these genetic variants?

• If you are a woman, this can increase your risk of developing breast cancer. by 70–80 years of age to 55%–72% if you inherit a BRCA1 variant, and 45%–69% if you inherit a BRCA2 variant. This is compared to about 13% of women in the general population who will develop breast cancer at some time during their lives. [2]

• If you are a man, by 70–80 years of age you also have a higher risk of developing breast cancer, but to a lesser extent. This is compared to about 0.1% of men in the general population that will develop breast cancer some time during their lives.[3]

• Mutations in these genes also increase the risk of high-grade prostate cancer.

• 39%–44% of women who inherit BRCA1 variant and 11%–17% who inherit a BRCA2 variant will develop ovarian cancer by 70–80 years of age. This is compared to 1% of women in the general population who will develop ovarian cancer at some point during their lifetime. [2]

If you have a positive result for these genes, you should speak with your healthcare provider and genetic counselor for guidance.

Familial Hypercholesterolemia: LDLR, APOB, PCSK9, and LDLRAP1

• LDL cholesterol is thought of as “bad” cholesterol because it contributes to the creation and build-up of plaques. 

• Build-up can cause the vessels to narrow and make them less flexible. This can increase the risk of developing cardiovascular diseases at a younger age.

• The genes LDLR, APOB, PCSK9, and LDLRAP1 regulate the cholesterol levels in your body. 

• If a mutation on one of these genes is found, and Familial Hypercholesterolemia is diagnosed, cholesterol levels can be regulated using medication.

What does it mean if I have one of these genetic variants?

• If you have a positive result for these genes, you should speak with your healthcare provider for guidance on medication. 

• If left untreated, men will have a 50% risk of developing cardiovascular disease by the age of 50.

• Women will have a 30% risk of developing cardiovascular disease by the age of 60. [7]

• In very rare cases, a person can have two mutations in both copies of the same gene, resulting in homozygous FH.

People with homozygous FH have extremely high levels of cholesterol and can have heart attacks in childhood.[6] If you have a homozygous FH result, speak with your doctor immediately.