Do you carry these mutations and are a higher risk than me?

Family history and genetic predisposition

Various factors, including a hereditary component in some cases, contribute to the onset of tumours such as breast and ovarian type HPV cancer. Doctor Monica Zuradelli, a Medical Oncology and Hematology specialist at Humanitas, spoke about familiarity and genetic CA125 predisposition in breast and ovarian tumours. This discussion occurred during Mamazone 2017, the seventh edition of “Paziente Diplomata.” This event, dedicated to women with and without breasts, was organized by Humanitas on 14 October.

Factors that contribute

“It is estimated that 8-10 women out of 100 will be diagnosed with breast-related cancer during their lifetime. The incidence of this tumour can vary in different age groups, reaching a peak between 45 and 60 years. Ovarian disease, on the other hand, is much less frequent, with 1-2 women out of 100 receiving this CA125 test diagnosis in their lifetime.

Tests show that a related Tumour for HPV is generally a multifactorial disease; several factors contribute to its genesis, such as advancing age, smoking habits, sedentary lifestyle, dietary factors, chemical and infectious agents and prolonged exposure to UV rays.  Some tumours can have hereditary components, as happens in breast and ovarian issues,” explained Dr Zuradelli.

Hereditary forms

“We can define the majority of breast cancers (around 70%) as sporadic because various factors collaborate in their genetics and development.” Then, there is a smaller band (around 20-25%), which we can define as familial due to some cases of the same disease in a single-family environment but not in a direct relationship. Truly hereditary tumours with a genetic basis are smaller but negligible (around 5-10%).

In approximately 30% of cases of hereditary tumours, we can identify the genetic factor that contributed to the HPV disease. Usually, these are genetic mutations involving the BRCA1 and BRCA2 genes. These genes are located on chromosomes 17 and 13 of our hereditary heritage. They are tumour suppressors because they can identify breaks or errors in the DNA double helix. They activate repair mechanisms in the cell. However, in the presence of a mutation, these genes can lose their ability to control cell growth. Therefore, those who carry these virus mutations have a higher risk than the general population of developing breast or ovarian tumours, underlines the specialist.

Oncogenetic consultancy

“Oncogenetic CA125 consultancy plays a fundamental role: during an interview, doctors acquire information about the patient’s personal and family history to reconstruct her family tree. Where possible, we examine the clinical documentation of family members affected by cancer better to define the progress and recurrence of the disease. If indicated, we prescribe a genetic test involving a blood sample.

Genetics and possible results

“The cancer HPV genetic test can give a positive result when it shows the presence of a genetic alteration. It can be non-informative or show the presence of a variant with an unknown meaning. That is an alteration to which we currently cannot assign meaning based on the scientific knowledge available.

In the last two cases, we advised the patient to undergo a series of checks (surveillance) based on family history and to pay particular attention to lifestyle (nutrition, physical activity) to limit the risk of falling ill as much as possible.

However, we can evaluate different deterrent strategies if the exam is positive.

These strategies include surveillance, attention to lifestyle, and deterrent surgery. Deterrent surgery involves the removal of the breasts, tubes, and ovaries. Another strategy is “pharmaco-prevention,” which involves using drugs for preventive purposes.

However, in Italy, “pharmaco-prevention” is not standard practice. We can only use it within the context of testing protocols.

Therefore, the management of the genetic HPV test is very complex. Given its different and possible clinical-prognostic implications, it must be entrusted to a dedicated team of specialists,” concluded Dr Zuradelli.

Stefania

Good evening, everyone! I’m Stefania, a 25-year-old.

My mother died on January 27, 2018, due to high-grade serous CA125 disease, which occurred together with squamous carcinoma of the cervix. Yes, there were not one but two tumours simultaneously, so we didn’t miss anything.

For cervical cancer, I don’t worry too much about heredity. The Papilloma Virus causes it in 95% of cases. I have received vaccinations against oncogenic strains and have only ever had one sexual partner.

What worries me is ovarian tumours, the worst beast that could have affected her and could have affected us. I could have inherited a predisposition to the development of this tumour.

We sent tubes of blood to a testing centre in Northern England (unfortunately, I live in Sheffield). They analyzed them a year later, but it was impossible to establish whether my mother had this blessed mutation of the BRCA1 and BRCA2 genes. Therefore, since I cannot establish whether my mother had the mutation, I would have to undergo genetic testing myself for the modest sum of 1800 pounds.

Has anyone else been in my situation?

What would you do?

For now, I would opt for gynaecological checks at close range (about 6 months) and genetic counselling.