🧬 Genes We Test

• MLH1, MSH2, MSH6, PMS2 (Lynch syndrome)

• APC (Familial Adenomatous Polyposis)

• MUTYH

Gene mutations cause about 35% of early-onset colorectal cancer, when people get cancer under 50 years of age.

📈 Risk Increase

• Lynch syndrome: Bowel cancer risk ranges from 12% to 75% before 75 years of age.

• Familial adenomatous polyposis (FAP): This is caused by a mutation in an APC gene. Polyps start in childhood, up to 90% of people will develop cancer by 45 years of age without treatment. Some types of APC gene mutation cause a milder form of FAP, these people have fewer polyps and develop cancer at older ages, on average 54 years.

• MUTYH-associated polyposis (MAP): Caused by mutations in the MUTYH gene. Usually, people are only affected if they inherit TWO faulty copies of the MUTYH gene. Occasionally some people have a combination of mutations in MUTYH and APC genes. The risk of bowel cancer in patients with two MUTYH gene mutations has been estimated at between 43%  to 100%. People with only one faulty copy may also be at slightly increased risk.

• Other less common gene mutations include POLE and POLD1, MSH3, and NTHL.

🛡️ If You Test Positive

• Early Detection
  • Colonoscopy: For example for MLH1 mutation carriers bowel cancer screening by a colonoscopy is recommended every 2 years from 25 years of age. This will help to detect cancers earlier, when treatment is easier and more successful.

• Prevention
  • Aspirin: Taking a simple aspirin tablet daily for 2 years reduced the risk of bowel cancer by 60%. That’s an enormous benefit for a simple medicine and a great example of why it is so important we find more people with these mutations so they get to actually prevent their cancers.
  • Fibre: a high-fibre diet can also reduce the risk of other cancers associated with Lynch Syndrome such as stomach and endometrium (womb).
  • Other Cancers: you can discuss options for reducing risk of other cancers. For instance, many women with Lynch Syndrome choose to have a hysterectomy (removal of the womb) to reduce the risk of endometrial (womb) cancer, after completing their family in their mid to late 40’s.

Mutations in Men and Other Cancers

Half of the people with a BRCA1 or BRCA2 mutation, will be biological males. Many men don’t worry about a family history of breast cancer but this is a mistake.

• Breast Cancer: Men with a BRCA1 or BRCA2 mutation have an increased risk of male breast cancer
  • It Is important they regularly check their chest and report any changes or lumps.
  • Male breast cancer is generally rare, affecting less than 0.02% of men, if they have a BRCA1 or 2 mutation that jumps to 7-9%.
    • It is strongly recommended that any male who has breast cancer themselves have genetic testing.
• Prostate Cancer: They have an up to 60% chance of getting prostate cancer in their lifetime. That’s over 8 times the average male.
  • Regular screening such as PSA tests can help them detect this earlier.
  • We also have newer screening options available at Coyne Medical, including the Stockholm3 test.
• Pancreatic Cancer:  The risk of this cancer particularly affects men over 50 years.
  • Men with a BRCA1 or BRCA2 mutation have over 7 times the risk of an average male.
• Melanoma skin cancer
  • Regular skin checks and preventative measures are important.

🧬 Genes We Test

• BRCA1 and BRCA2

• PALB2, HOXB13, ATM, CHEK2

• EPCAM, MLH1, MSH2, MSH6

Prostate cancer has a strong genetic component. For example, we know if a man has a brother with prostate cancer they have a 30% chance of developing prostate cancer before 75 years of age. Testing for inherited cancer risk is especially important if there is a family history of prostate cancer before 60 years of age or metastatic prostate cancer.

📈 Risk Increase

• BRCA2: BRCA2 mutation carriers have up to 8 times higher risk compared to non-carriers. The risk in BRCA1 mutation carriers is lower.

• HOXB13: increased risk especially with family history, may cause a 3 to 4 times higher chance of prostate cancer.

• ATM and CHEK2: carriers of these mutations have approximately 2 to 3 times the risk of prostate cancer.

• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6): Have about 2 times the risk of a non-carrier, but those with a MSH2 mutation may be at higher risk, approximately 23% chance before 75 years of age.

• PALB2: The risk of prostate cancer is not clear, but regular checks are sensible as some men may be at risk, especially if there is a family history.

🛡️ If You Test Positive

• Earlier and more frequent PSA testing (prostate cancer blood test)

  • We can also use newer tests such as Stockholm3 and Multi-Cancer Early Detection Blood tests.

• MRI prostate screening

  • Especially valuable for increases in PSA and more accurate diagnosis.

• Personalised decisions around biopsy and treatment

• Protecting Family Members

  • Relatives can benefit from extra and earlier prostate cancer screening. Many of the genes involved are also linked to other cancers, so we can offer extra screening and early detection for these too.
    • Breast Cancer
    • Ovarian Cancer
    • Colon Cancer
    • Pancreatic Cancer

🧬 Genes We Test For

• BRCA1, BRCA2, PALB2 

• RAD51C, RAD51D, BRIP1

• Lynch Syndrome (MLH1, MSH2, MSH6, PMS2 genes)

📈 Risk Increase

• BRCA1 carriers have approximately a 40% risk.

• BRCA2 carriers have approximately a 15% risk.

• Lynch Syndrome (MLH1, MSH2, MSH6, PMS2 genes): the ovarian cancer risk may be up to 13%, in MSH2 carriers.

• PALB2: the risk is estimated at around 5%.

• BRIP1: the lifetime risk is about 5.8%.

• RAD51C and RAD51D the risk is 5.2% and 12% respectively over the person’s lifetime.

🛡️ If You Test Positive

• Consider preventative surgery after childbearing (salpingo-oophorectomy)

  • Removal of the tubes and ovaries, usually done as a laparoscopic (keyhole) surgery can significantly reduce the risk of cancer

• Personalised screening

  • Knowing the increased risk makes the use the of latest tests including Ca-125 blood test, and the Multi-Cancer Early Detection Blood test.
• Symptom Awareness
  • Ovarian cancer symptoms are often confused for other conditions, such as digestion issues or bladder problems. Knowing you are at increased risk means we can act early on any symptoms.

• Hormonal and lifestyle support post-surgery

  • We can personalise your management after risk-reducing surgery, including using Hormone Replacement Therapy.

• Protect Family Members

  • Give the power of prevention and early detection to your loved ones. Many of the genes linked to ovarian cancer are also linked to other cancers which can be preventable and detected earlier with the right screening, including:
    • Breast Cancer
    • Prostate Cancer
    • Pancreatic Cancer
    • Bowel Cancer
    • Endometrial (womb) Cancer

🧬 Genes We Test

• CDKN2A (most common)

• BAP1 (associated with multiple cancers)

• CDK4, PTEN, BRCA2

Melanoma risk is largely inherited as we inherit our skin colour from biological parents, and we know light-skinned people have 2 times the risk of dark-skinned people. But some families do carry a harmful genetic variant which passes on a high risk of melanoma, it is especially worth screening when people have had multiple melanomas, or been diagnosed under 40 years of age.

📈 Risk Increase

• CDKN2A: 30–70% lifetime risk depending on family history and sun exposure

• BAP1: linked to melanoma of the skin and eye

• CDK4: may have a lifetime risk of up to 80% for melanoma

🛡️ If You Test Positive

• Full skin checks annually

  • We know early detection of melanoma is very important to make treatment easier and more successful.

• Personalised advice on UV protection and mole surveillance

  • Monthly self-checks are sensible alongside your regular visits. Plus careful UV protection can significantly reduce your risk of melanoma.

• Early biopsy of suspicious lesions

  • Knowledge of your risk means you can get new lesions checked promptly.

• Protecting Family Members

  • Knowledge of a gene mutation in a family means you can give your loved the power to prevent cancer and detect it earlier. Many of the genes linked to melanoma are also linked to other cancers, which we can do additional screening and early detection for, including:
    • Pancreatic Cancer
    • Breast Cancer
    • Ovarian Cancer