Do you have a genetic predisposition?

Family history and genetic predisposition

Various factors contribute to the onset of a tumour. In some cases, there is the participation of a hereditary component, as can happen in breast and ovarian tumours. Doctor Monica Zuradelli, the test specialist in Medical HPV Oncology and Hematology at Humanitas, spoke about familiarity and genetic predisposition in breast and ovarian tumours during Mamazone 2017, the seventh edition of “Paziente diplomata”, a day dedicated to women with and without breast cancer, organized by Humanitas on 14 October.

Factors that contribute to disease

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

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

Hereditary forms

“The majority of breast cancers (around 70%) can be defined as sporadic. Various factors collaborated in its genesis and development. Then, there is a smaller band (around 20-25%), which we can define as familial. This is 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 disease. Usually, these are genetic mutations involving the BRCA1 and BRCA2 genes.

These genes, located on chromosomes 17 and 13, are defined as tumour suppressors. They can identify the appearance of breaks or errors in the DNA for the HPV double helix and active reparation mechanisms in the cell. However, in the presence of a mutation, these genes can lose the ability to control cell growth. Therefore, those who carry them have an elevated risk than the general population of growing breast or ovarian cancerous cells, underlines the specialist.

Oncogenetic consultancy

“Oncogenetic 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, test doctors examine the clinical documentation of family members affected by ca125 cancer better to define the progress and recurrence of the disease. If indicated, doctors prescribe a genetic exam, which they carry out by taking a blood sample.

Genetics and possible results

“The exam can give a positive result when it shows the presence of a mutation. It can be non-informative or show the presence of a variant with an unknown meaning. That is an alteration to which we cannot give meaning based on the available scientific knowledge. In the last two cases, the doctor advises the patient to undergo a series of checks that depend on familial history. They ask the HPV Patient to pay particular attention to tests for lifestyle factors such as nutrition and physical activity. This is to limit the risk of falling ill as much as possible.

If the result is positive, however, we can evaluate different deterrent strategies: surveillance, attention to lifestyle, deterrent surgery, and “pharmaco-prevention,” i.e., the use of drugs for preventive purposes. In Italy, however, the latter is not standard practice for cancer. We can only use it in the context of the protocols.

The CA125 management of the genetic test is, therefore, very complex. Given the different and possible clinical-prognostic implications, it must be entrusted to a dedicated team of specialists”, concluded Dr. Zuradelli.

Good evening, everyone!

I’m Stefania, a 25-year-old. My mother died on January 27, 2018, due to an HPV high-grade serous carcinoma of the ovary. It occurred together with squamous carcinoma of the cervix. Yes, not one, but two tumours simultaneously, so we don’t miss anything.

For cervical disease, I don’t worry too much about heredity. It is caused in 95% of cases by the Papilloma Virus, and I have been vaccinated against oncogenic strains. I have only ever had one sexual partner.

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

Tubes of CA125 blood were sent to a testing centre in Northern England, but they were analyzed a year later. It was not possible to establish whether my mother had this mutation of the BRCA1 and BRCA2 genes. Since I could not establish the presence of the mutation, I would have to undergo genetic check myself. The exam is for a modest sum of 1800 pounds.

Has anyone else been in my situation?

What would you do?

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

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