“Knowledge is power, but knowledge can also cause fear.” Nowhere is this sentence more applicable than in the subject of hereditary breast cancer. Since Angelina Jolie made her preventive surgery public, we know: breast cancer can be hereditary. But what exactly is inherited? And should you get tested?
Breast cancer is the most common cancer among women. But “only” about 5 to 10 percent of all cases are due to an inherited genetic change. For the affected families, however, this knowledge is existential: a mutation in risk genes such as BRCA1 or BRCA2 can extremely increase the lifetime risk for cancer—from the usual 12% to up to 80%.
The Suspects: BRCA1 and BRCA2
BRCA stands for “BReast CAncer.” Actually, these genes are the “good guys.” In their healthy form, they are tumor suppressors—they repair DNA damage and prevent cells from proliferating uncontrollably.
However, if there is a mutation (a “spelling mistake”) in these genes, the repair shop fails. Damaged cells can multiply and develop into cancer.
BRCA1
The “Angelina Jolie gene.” High risk for early breast and ovarian cancer.
BRCA1 Mutation Risk
Lifetime risk for breast cancer
BRCA1 Mutation Risk
Lifetime risk for ovarian cancer
Difference BRCA1 vs. BRCA2: Women with a BRCA1 mutation often fall ill earlier (often before the age of 40) and have a very high risk for ovarian cancer. BRCA2 mutations are also associated with a high risk, but it often manifests a bit later in life. Men with a BRCA2 mutation also have an increased risk for breast and prostate cancer.
The “New” Genes: PALB2, CHEK2, ATM
Science does not stand still. In addition to the well-known BRCA genes, further “moderate-risk” genes are known today. Mutations in PALB2 can increase the risk as strongly as BRCA2. CHEK2 and ATM double to triple the risk. A modern “panel” usually tests a dozen genes simultaneously today (multi-gene panel analysis).
Who Should Be Tested?
A genetic test is not a routine check-up for everyone. It is useful if the family history suggests a hereditary burden. German centers for hereditary breast and ovarian cancer use the following criteria as “alarm signs”:
- At least three women in the family have breast cancer (regardless of age).
- Two women have breast cancer, one of them before the age of 51.
- One woman developed breast cancer (before the age of 36).
- One woman has bilateral breast cancer (first diagnosis before age 51).
- One man in the family has breast cancer.
- One woman has ovarian cancer.
A Positive Result—What Now?
A positive test (“mutation found”) is a shock. But it is not a cancer diagnosis. It is a risk prediction. And it gives you the most valuable advantage in the fight against cancer: time and options for action.
Option A: Intensified Early Detection
Affected individuals participate in a high-intensity screening program that goes far beyond normal screening:
- MRI of the breast once a year (often starting at age 25).
- Ultrasound and mammography in close rotation.
- Goal: find the cancer so early that it is almost always curable.
Option B: Prophylactic Surgery
This is the path Angelina Jolie chose. The removal of healthy breast tissue (mastectomy) reduces the risk of disease by over 95%. The breasts can be reconstructed in the same step with implants or the patient’s own tissue.
The removal of the ovaries (oophorectomy) is also often recommended after age 40, when family planning is complete. This not only drastically reduces ovarian cancer risk but also halves breast cancer risk (since fewer hormones are produced).
The Polygenic Risk Score (PRS)
What about women who have a family history but no BRCA mutation? This is where the Polygenic Risk Score comes in. It doesn’t look at a single “destroyer” but at thousands of small variants in the genome, each harmless on its own, but increasing the risk in sum. This method is still new but will soon become standard for calculating individual risk even more precisely.
Conclusion: Do Not Fear the Truth
A genetic test changes your life. It can be a burden, but it also ends uncertainty. Those who know their risk are no longer at its mercy. You can take action—be it through close monitoring or preventive steps—to stay healthy.
Important: Always seek advice from a specialized center for hereditary breast cancer. A “do-it-yourself” test from the internet is out of place here and not medically meaningful.
Men and BRCA: The Forgotten Risk
When we talk about breast cancer genes, everyone thinks of women. But that is a dangerous fallacy. Men also have breast tissue (though little) and can develop breast cancer—the risk rises drastically from 0.1% to approx. 7% with a BRCA2 mutation.
Much more relevant for men, however, is another organ: the prostate. Carriers of a BRCA mutation have a significantly increased risk for a particularly aggressive prostate carcinoma that occurs at a young age and spreads quickly.
Therefore: if breast cancer occurs frequently in a family, MEN should also be tested. Not just for themselves (prostate early detection), but also as “carriers.” A father passes on his X or Y chromosome—but the BRCA genes lie on chromosomes 13 and 17. He can therefore pass the risk to his daughters 50% of the time, even if he remains “silent” himself (conductor).
The Psychological Burden: “Previvors”
People who have the mutation but (not yet) cancer often call themselves “previvors.” They live in a constant state of waiting. Every lump, every tug triggers panic.
The decision for prophylactic mastectomy is brutally hard. “Should I have healthy organs amputated?” Psychological support is essential here. Self-help groups offer invaluable assistance. Exchanging ideas with women who have already taken the step and are living happily often takes away the terror.
Frequently Asked Questions
What are BRCA1 and BRCA2?
These are genes that actually suppress tumors (tumor suppressor genes). In their healthy form, they repair DNA damage. Mutations in these genes drastically increase the risk of breast and ovarian cancer because this repair mechanism fails.
Should every woman be tested?
Not necessarily. Genetic testing is primarily recommended if there has been a high frequency of breast or ovarian cancer in your family, especially if cases occurred at a young age (under 50).
Does health insurance pay for the test?
Yes, in many cases insurance covers the costs if specific medical indications are met and professional genetic counseling has taken place. This usually requires a documented family history of related cancers.
Can I take the test without family cases?
Yes, it is possible as a self-payer (costs approx. €1,500 – 3,000). However, without a family background, the medical value is often limited, and the result can be psychologically burdensome without clear context.
What are the consequences of a positive result?
A positive result enables intensified early detection (e.g., more frequent MRIs) or preventive surgical measures. Such decisions are highly personal and must always be discussed with a specialized physician or genetic counselor.
Do fathers also inherit the risk?
Yes! The BRCA genes are not located on the sex chromosomes. A father can pass the mutation to his children (both daughters and sons) even if he never falls ill himself or only develops cancer (like prostate cancer) late in life.