When cancer risk runs in your genes

5 to 10% of cancers are hereditary, caused by a mutation present from birth in a gene that would otherwise help protect against the disease. Hereditary breast and ovarian cancer syndrome (HBOC), for example, is associated with mutations in several genes, including BRCA1 and BRCA2. Unlike most other cancer risk factors, a hereditary predisposition can be identified before any disease develops – through a genetic test, often prompted by a diagnosis elsewhere in the family.

That is also how Martina Fraioli found out. Her mother was diagnosed with advanced ovarian cancer in 2016 and later tested positive for a BRCA1 mutation. Martina’s grandmother had had breast cancer a decade earlier, at 66 – an age that hadn’t raised any suspicion of a genetic cause at the time, and no doctor had ever mentioned genetic risk to the family. Martina was tested next. In January 2018, when she was 24, the result came back positive. “I was the first in my family to discover the mutation without developing the disease,” she says.

She started a prevention programme in Italy, where she was living at the time, with the support of the patient association aBRCAdabra. “It really helped me a lot. I could get information and meet other carriers,” she recalls. “It was very, very valuable.” A year later she moved to Belgium for work and found no equivalent. There were associations for breast cancer patients and survivors, but as a healthy carrier, she didn’t feel represented by them. So, in January 2024, together with Dr Daphné t’Kint de Roodenbeke and her partner Geoffroy, Martina founded BRCA+ Network, a patient association for people with a hereditary predisposition to breast, ovarian and prostate cancer. “We call it a network because, from the very beginning, we wanted to build a patient community and at the same time work closely together with the medical field,” Martina explains. “That constant dialogue is vital for a patient association.” Its mission, as she describes it, has three main objectives: informing and raising awareness, supporting patients, and advocacy.

A test result is not a diagnosis

A mutation present from birth doesn’t mean someone has cancer, or that cancer is inevitable. It means a significantly increased risk of developing cancer over a lifetime. The cancer risks associated with an inherited mutation vary depending on the gene involved, the type of cancer and, in some cases, the family history. “For breast cancer in women, for example, it can be up to 80%,” Martina says, “but it really depends on the type of mutation.”[1]

Carriers can manage this risk through more intensive screening, risk-reducing surgery, or a combination of both, with the approach decided together with a medical team. Belgium has national guidelines for exactly this: specific recommendations for mutation carriers, regularly updated by the Belgian Society of Human Genetics. On paper, this puts Belgium ahead of many other countries.

Why patients don’t always find their way in

So the guidelines exist.[2] But in Martina’s experience, they don’t reach the people who need them – the general population, carriers, and, in some cases, healthcare professionals too. BRCA+ Network’s information and awareness initiatives target exactly those three groups.
First, the general population: raising awareness of hereditary cancer and why genetic testing matters – not only for the person tested, but also for future generations if that person has, or one day wishes to have, children. Second, the community of carriers itself: practical information about what to do once a mutation is confirmed. And third, healthcare professionals. “There’s still quite some work to be done,” Martina says, “when it comes to understanding genetic mutations better, and supporting patients in getting the information and the prevention programme started.”

“In my experience, when you go to your GP, they’ll often ask about diseases in the family – diabetes, and so on,” Martina continues. “But family history of cancer doesn’t always come up. Patients don’t always raise it themselves, as they may not realise it’s relevant. So, the question has to come from the professional, and needs to go beyond a yes or no: which relatives, and which types of cancer?”

“We also realise that non-specialised gynaecologists may lack some expertise,” she adds. “There seems to be very little knowledge, generally, of the prevention programme for mutation carriers. What do you have to do? Where do you have to do it?” Ideally, gynaecologists follow and support their patients once a mutation is confirmed, but Martina says this often doesn’t happen in practice.

And when a carrier brings up the subject of prevention, healthcare professionals sometimes question the decision: “Why would you want to have a mastectomy if you’re healthy?”

“We’re not asking all healthcare professionals to become geneticists,” Martina reassures. “We just need them to have the basic information – recognise a hereditary risk when they see one, know the criteria for genetic testing, and refer a patient to an oncogeneticist when needed.”

Information alone is not always enough

BRCA+ Network works hard to inform and raise awareness. Its website is a treasure trove of information and links to useful resources. “We want to provide all the information so people can make informed choices about their health. We’re not here to tell patients that they have to have a mastectomy. Absolutely not,” Martina stresses. “But sometimes, even when you have the information, you’re too scared to take certain steps. So, we also aim to provide all the support we can, so that patients can at least start thinking about their options.”

This support takes several forms. BRCA+ Network runs webinars where patients and clinicians speak side by side, a combination Martina sees as a winning formula.

They also produce practical guides, written by patients with input from clinicians. The first covers the what and how of preventive mastectomy, in highly accessible language and with the kind of first-hand information you won’t find in other guides. “Women who are about to have a mastectomy keep telling us how useful it is. Even just having a list of things to do before surgery is very helpful.”

The BRCA+ Buddy programme is their flagship support initiative. It matches carriers with volunteers who have a similar profile, not only in terms of genetic mutation, but also age, family situation and so on, and who have already been through the same experience, such as a preventive mastectomy, an oophorectomy or a fertility decision. Buddies are not simply willing volunteers. They have an introductory interview and receive thorough training, and some are turned down, at least for the time being, if they are not yet ready to support someone else. “Being a buddy is quite a responsibility,” Martina says.

Walk the talk

When it comes to policy, Martina believes one of the main issues is the scope of cancer prevention. She gives a concrete example: BRCA+ Network wanted to apply to a national call for cancer prevention projects. When they checked the eligibility criteria, hereditary cancer risk wasn’t among them: only factors such as smoking and alcohol consumption were included. “We asked why and were told it wasn’t regarded as relevant enough to be included among the key criteria for cancer prevention research.” Martina is adamant: “When it comes to cancer prevention, we really need to move beyond the traditional focus on lifestyle factors and take a more comprehensive approach – one that also recognises genetic and hereditary risk.”

Martina sees the same limitation in Belgium’s breast cancer screening policy, in a different way. A recent report from the KCE, Belgium’s federal healthcare knowledge centre, looked at whether the country’s breast cancer screening programme should be expanded. Its conclusion was that the existing programme should first be improved, rather than extended to include other target groups. Martina agrees with that conclusion: not all women who are currently eligible for screening are taking part. But she regrets that prevention for people who discover that they carry a genetic mutation was not part of the discussion at all. How should breast cancer prevention be organised for someone who learns that they carry a genetic mutation?

Carriers, Martina says, don’t yet have anything like organised population screening – a single, centralised pathway that reaches everyone. “Once you find out that you carry a mutation, you’re largely left on your own to organise the intensive radiological screening you need, such as mammograms and MRIs. And I can assure you that many people don’t keep up with it, because no one checks whether they do.”

The data exists. The overview doesn’t

Part of the reason carriers don’t always experience an organised, register-based pathway, Martina assumes, might be that Belgium doesn’t have a clear picture of who would need to be included. Genetic centres are required to register BRCA+ mutations, so the data exists – but there is no centralised register bringing it all together.

In her view such a register shouldn’t be limited to people who have or have had cancer. Cancer patients are already captured through the cancer registry. “But what’s missing is a picture of the people who carry the mutation without a cancer diagnosis – women and men,” she says. “We would like to know how many healthy people with a mutation there are in Belgium. Because without that figure, it’s difficult to develop and implement effective prevention strategies for them. That’s a missed opportunity.”

Why a patient voice at the table matters

For Martina, joining All.Can Belgium is primarily about advocacy: raising awareness among policymakers and industry and bringing the patient perspective into discussions involving different stakeholder groups. As she sees it, patient associations are still relatively underrepresented. One issue she wants to put on the agenda is prevention. While cancer care and treatment naturally receive considerable attention, Martina believes more discussion is needed about improving cancer prevention, through greater awareness and innovation and by looking beyond the medical aspects.

Recommendations to fill the gaps

BRCA+ Network runs entirely on volunteers and relies on sponsorships and project-based funding rather than structural support. Funding has become harder to secure even as demand from patients has grown, limiting what the organisation can do. “We’d love to do much more advocacy, but doing this work in our spare time is quite challenging,” Martina admits. “So, for now, we’ve been focusing on one main action: developing a white paper.”

That paper – an advocacy document rather than a patient guide – will be published later this year. It will set out recommendations for healthcare professionals and policymakers, addressing the issues highlighted throughout this article: clinical awareness, access to structured prevention pathways, research funding criteria and a national registry.

For Martina, the message is ultimately a simple one: hereditary cancer risk needs to be recognised, understood and acted upon. “We need to raise awareness among healthcare professionals and policymakers about hereditary cancer risk, make sure people understand the importance of genetic testing, and take the necessary preventive measures to reduce the risk of cancer.”

[1] Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline – Annals of Oncology.
[2] HBOC Management Guidelines 2026
en Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline – Annals of Oncology.