Coping With the Anxiety of — a Positive Genetic Test

Risk percentages in a genetic report describe the probability of developing a cancer over a lifetime — not your personal certainty. They come from studies tracking thousands of people with the same variant over decades.

For BRCA1 carriers, NCCN cites a lifetime breast cancer risk of approximately 72 per cent by age 80, and a lifetime ovarian cancer risk of approximately 44 per cent. For BRCA2 carriers, lifetime breast cancer risk is approximately 69 per cent, and ovarian cancer risk approximately 17 per cent. These compare to a general population lifetime breast cancer risk of approximately 12 to 13 per cent.

For Lynch syndrome, lifetime risk depends on the specific gene. NCCN reports that MLH1 and MSH2 variants carry a lifetime colorectal cancer risk in the range of 52 to 82 per cent. MSH6 and PMS2 variants carry a lower lifetime colorectal cancer risk, in the range of 10 to 22 per cent.

These figures tell you that your risk is meaningfully higher than the population average. They do not tell you that cancer is certain. For some variants, even the quoted lifetime risk remains below 50 per cent. Your genetic counsellor will explain what your specific variant and family history mean for you personally.

For BRCA1 and BRCA2 carriers, NCCN recommends annual breast MRI from around age 25, with mammography added from around age 30. Ovarian cancer surveillance — typically transvaginal ultrasound and a CA-125 blood test — is recommended from around age 30 to 35, every six months, alongside a discussion about whether risk-reducing surgery is appropriate for you.

For Lynch syndrome carriers, NCCN recommends colonoscopy every one to two years beginning from age 20 to 25, or two to five years before the earliest colorectal cancer diagnosis in the family, whichever is earlier. For women with Lynch syndrome, gynaecological surveillance including endometrial biopsy typically begins from around age 30 to 35.

A cancer found during a scheduled surveillance appointment is almost always at an earlier and more treatable stage than one found after symptoms appear. This is why the schedule exists — not to make you more anxious, but to give you the best possible chance of catching any change early.

Your surveillance plan will be personalised based on your specific gene variant, your personal history, and your family history. Use this as a framework for conversation with your oncologist, and ask specifically what applies to your variant.

Yes, what you are feeling is a normal and expected response. Finding out you carry a pathogenic variant often produces feelings that move between dread, hypervigilance, and an inability to make any decision at all. These are predictable reactions to living with elevated but uncertain future risk.

What the evidence on hereditary cancer anxiety shows consistently is that structured action reduces distress more than waiting does. Having a written surveillance schedule, a clear next appointment, and someone who can answer your questions does more for anxiety than reassurance alone.

The urge to do everything immediately — or to make no decisions at all — is also common. A genetic counsellor can help you distinguish what genuinely needs a near-term decision from what can wait until you feel more settled.

Ask your team whether psychological support is available at your centre. Oncology nurses, social workers, and counsellors who work in cancer genetics are familiar with exactly this kind of distress. Seeking support is not a sign of weakness — it is one of the more practical steps you can take.