Olivia Munn and the test that revealed her breast cancer risk

Olivia Munn and the test that revealed her breast cancer risk

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Can an online test help detect breast cancer? The story is about Olivia MunnAmerican actress and model, 43 years old, who yesterday said on Instagram that she had breast cancer last year.

“In February 2023 – writes Munn – to be proactive about my health, I took a genetic test that considers [le mutazioni di] 90 genes, and I tested negative for all of them, including [le mutazioni dei] BRCA genes, the well-known ‘breast cancer genes’. My sister Sara also tested negative. I also had a mammogram that winter, which came back normal. Two months later I was diagnosed with breast cancer.”

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She wouldn’t have discovered the disease for another year, that is, until her next scheduled mammogram, Munn continues, if the doctor hadn’t calculated her risk of breast cancer. She did it through the Breast Cancer Risk Assessment Tool (BCRAT), which was found to be 37% (i.e. well above the population average). And for this “score” – the actress continues – she prescribed an MRI, which then led to a biopsy and the diagnosis of luminal B type tumors (i.e. sensitive to estrogen) in both breasts.

The Gail Model

But what is the Breast Cancer Risk Assessment Tool? Let’s start by saying that it is one of the various risk prediction algorithms used in oncology, i.e. to estimate a person’s clinical risk of developing a tumor, taking various factors into account overall. Also known as “Gail Model” (by Mitchell H Gail, biostatistician at the US National Cancer Institute – NCI), this tool is based on some anamnestic data and provides a numerical estimate – as a percentage – of a woman’s probability of developing invasive breast cancer over the course of subsequent 5 years (and up to the age of 90).The estimate is compared with the average of the reference population.

The questions in the test concern personal clinical and reproductive history (the age of menarche, whether one has had children and at what age, and so on) and cases of breast cancer possibly present in the family (mother, sisters, daughters, while not takes into account any cases in males, which raise strong suspicions due to the presence of genetic mutations).

The limits

These tools are designed to be used by doctors but, being online, women can also access them independently. As the National Cancer Institute explains, the Gail Model has been validated in the USA for women of different ethnic groups (the risk also changes based on this characteristic); Caucasian, Black African American, Hispanic, Asian, and Pacific Islander. The tool – warns the NCI – is based mainly on data from white American women and may underestimate the risk for other populations.

Other limitations concern women who carry a mutation in the BRCA genes (which alone greatly increase the possibility of getting the disease) and those who have already had breast cancer (invasive or in situ). Obviously, although these tools can be useful and immediate, they do not allow us to say with certainty whether a tumor will develop, or when: women who will never develop a tumor may have a higher test “score” than that of women who, instead, they got sick.

“The Gail Model has been used a lot in the past, especially in the USA, while today it is much less widespread, because it has various limitations and more complete and advanced risk predictive models now exist – he explains to Salute Seno Irene Feroce, Genetic Counselor of the Division of Genetics and Cancer Prevention at the European Institute of Oncology in Milan – This tool, in fact, takes into consideration few parameters compared to what is normally done today in clinical practice when one finds oneself evaluating the risk of cancer and other syndromes of a person. For example, there are tools that also integrate data on breast density, which represents an important risk factor, or take into account hormone replacement therapy, which increases the exposure time to estrogen. Again: which allow you to integrate genetic data on different mutations, not just BRCA genes. Or that they also consider the male branch of the family.”

The medical history is almost everything

As a genetic counselor – a figure still not very widespread in Italy – Feroce is called upon to carry out a real triage of people for whom there is a suspicion of a hereditary-familial risk of cancer: “We do an in-depth anamnesis, which takes a lot of time, and we collect the family’s clinical history, reconstructing the family tree – explains the expert – It is important to remember that the information reported by patients is often not precise. When I make a risk estimate, therefore, I often ask for more confirmation than I receive reported and, if possible, clinical documentation”.

Beware of DIY

Understanding the meaning of a probability is certainly difficult for those who are not in the profession. But in people without familiarity, who therefore have no reason to turn to a specialized center where there is a path for high hereditary-familial risk, could the Gail Model – or similar tools – still be useful? “In general, do-it-yourself is always dangerous – replies Feroce – Online we also find offers for genetic tests, but the result must be well interpreted, or there is a risk of generating unnecessary anxiety. Being a simple and not particularly accurate tool, the The Gail model can give us a rough idea of ​​our risk, but we absolutely need to talk about it with a specialist.”

Intercept women at greatest risk

Establishing the most suitable diagnostic path for each woman is therefore a complex issue, which certainly cannot be based solely on the result of an online test. “In young women as in the aforementioned case of the American actress – who in Italy are not yet included in organized mammographic screening – we already know that mammography can have reduced sensitivity, for this reason the radiologist evaluates whether to associate it with breast ultrasound or, in cases selected, at MRI, as complementary tests”, he comments Massimo Di Maiopresident-elect of the Italian Association of Medical Oncology.

Attention should always be high when there is a high familiarity for tumors, even when known genetic mutations are not found, as required by the guidelines: “The paradigm, however, is very different if we are dealing with a woman who has a symptom or has a strong familiarity with tumors, or if we are faced with asymptomatic women who undergo a screening mammogram. Identifying who among them is at greatest risk is not yet an easy thing to achieve in clinical practice”.

“Risk predictive models, such as the Gail Model, are not used in our clinical practice because we already have very precise and well-defined indications to establish who should perform the MRI, since there is a strong risk of over- treat patients – he adds Nicoletta Gandolfo, elected president of the Italian Society of Medical and Interventional Radiology (Sirm), coordinator of the Breast Unit and Director of the Imaging Department of the ASL3 Villa Scassi of Genoa – When nothing can be seen on the MRI, then it means that there really is nothing there , and this is its true value. Instead, there is a risk – concludes the expert – of interpreting functional pathologies simply linked to the cycle as suspicious lesions, especially in young women”.

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