While most breast cancer occurs by chance, about 5-10% of cases are hereditary. In some families, breast and ovarian cancer are linked due to inherited genetic changes. Identifying these genetic mutations can help guide cancer screening and risk-reducing strategies.

Certain factors may indicate a hereditary risk, including:

• Breast cancer diagnosed before age 45
• Triple-negative breast cancer
• Cancer in both breasts (bilateral breast cancer)
• Multiple relatives with breast cancer
• Family history of ovarian, prostate, pancreatic, or male breast cancer
• Jewish ancestry

Several genes are associated with an increased risk of breast cancer. At Check4Cancer, patients having cancer treatment who have insurance are usually tested for these. They include:

ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, PTEN, STK11, TP53, RAD51C, RAD51D

A more comprehensive 31 gene panel is also available to self-pay patients. These include:

• APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, MUTYH, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL.

Genes come in pairs – one from each parent. Most hereditary breast cancer syndromes follow a dominant inheritance pattern. This means if a person carries a pathogenic variant in one of these genes, they have a 50% chance of passing it on to their children. Cancer risk can be inherited from either parent.

Genetic testing can help determine an individual’s risk of developing breast cancer. If a pathogenic variant is found, tailored screening programs and risk-reducing options, such as increased monitoring or preventive measures, can be considered.

No, you can choose to be tested for some or all of the genes in the panel. The number of genes tested does not affect the time or cost of testing.

There are three possible outcomes:

1. 1. Pathogenic variant found – A variant  known to increase cancer risk is detected. This may impact treatment decisions and screening recommendations.
2. 2. Variant of unknown significance (VUS) – A genetic change is found, but its impact is unclear. Screening recommendations will be based on family history.
3. 3. No pathogenic variant found – No known variants  are detected, but cancer risk may still be influenced by family history and other factors.

If a pathogenic variant is found, your cancer risk may be higher. Screening will be tailored based on the specific gene involved, and additional options such as risk-reducing surgery may be discussed. Family members may also consider testing to assess their own risk.

Individuals with an increased risk may undergo:

• Regular mammograms (starting at an earlier age than the general population)
• Breast MRI scans (for more detailed imaging in women under 40)
• Screening for other cancers (if associated with the genetic variant found)

Some individuals may consider preventive measures, including:

• Risk-reducing mastectomy – Surgical removal of breast tissue to lower cancer risk.
• Bilateral salpingo-oophorectomy – Removal of ovaries and fallopian tubes, particularly for BRCA mutation carriers.
• Increased screening – Regular monitoring to detect cancer early.

Knowing what is normal for your breasts can help detect changes early. Check your breasts monthly at the same time in your cycle. If you notice any of the following, seek medical advice:

• A new lump, thickening, or bumpy area
• Changes in skin appearance (puckering or dimpling)
• Persistent discomfort or pain
• Bloodstained nipple discharge
• Rash or redness on the nipple or areola
• Changes in nipple position (pulling in or pointing differently)

Most breast changes are not cancer, but it is always important to have them checked by a doctor.

Some hormonal factors may affect breast cancer risk:

• Early puberty (before age 12) and late menopause (after age 55) increases risk.
• Breastfeeding lowers risk.
• Having children before age 30 reduces risk.
• The contraceptive pill may slightly increase breast cancer risk but lowers ovarian cancer risk when used for five or more years.
• Hormone Replacement Therapy (HRT) slightly increases breast cancer risk after menopause but may be helpful for women with early menopause due to surgery.

If you have a family history of breast cancer or other concerns, speak with a healthcare professional. They can assess your risk, discuss genetic testing options, and recommend appropriate screening or preventive measures.

Not all insurance companies will cover the pre- and post-test appointment if you are already under the care of an oncologist or surgeon please get in touch with your PMI provider.