I have already told you about what breasts are like and that it is an organ that is not pampered in Polish medicine, in the context of the text about pain . Today, however, I would like to focus on an issue closer to my heart, namely breast cancer. It is the most common cancer in the world among women and, unfortunately, one of the leading cancers causing their death. To illustrate, in 2018, two million new cases were recorded in the world. Almost a quarter of women receiving an oncological diagnosis in our country learn that they have breast cancer (exactly 22.8%). According to data available on the website of the National Cancer Registry, the incidence of this cancer has more than doubled over the last three decades. It affects increasingly younger women, who are at the peak of their life activity, but in our country, preventive tests only cover women who are most at risk of this cancer, i.e. those aged 50-69. They are advised to have a mammogram every two years. In order to classify a test as screening, it must include the asymptomatic phase of the disease, the test method cannot generate excessive costs, and at the same time, the group most at risk of its occurrence must be tested. Here, everything is correct! However, we should feel all the more motivated to take preventive measures on our own initiative and not wait for an invitation from the government. I have already written about palpation (both self-examination and examination by a gynecologist), but it is also important to perform imaging tests. While there are no indications for frequent tests in women without aggravating factors, girls who show any of the risk factors for breast cancer, or whose families have already had this cancer, should check themselves every year.
Detailed guidelines for women from families at high risk of developing breast and ovarian cancer (based on ESMO and PTG guidelines) include monthly breast palpation (remember, always on the same day of the menstrual cycle, both breasts and the armpits), once a year imaging tests ordered by a doctor depending on the structure of the breasts and age, once a year a gynecological examination with transvaginal ultrasound, and once a year from the age of 30, determination of the Ca125 marker in the blood serum.
So what are the factors that contribute to the disease? Of course, female gender and the previously mentioned age (around the sixth decade of life), but also early menstruation (before the age of 12), as well as late menopause. These two dates extend our exposure to estrogens, which increases the likelihood of developing breast cancer. Obesity is a problem in the context of estrogens, because they are also produced in greater quantities in adipose tissue. Some sources indicate that dense (glandular) breast structure means an even 4-6-fold increase in the risk of disease. Pregnancy at a later age, not being pregnant or not breastfeeding also do not work in our favor. Environmental factors such as radiotherapy to the chest area, contraception, hormone replacement therapy or alcohol consumption also have a proven strong relationship with the occurrence of this cancer. Other factors considered probable and still being studied include: low physical activity, smoking, working at night (the relationship between melatonin and estrogens) or some benign changes in the breasts. However, I have not yet mentioned a whole group of factors that have a very strong correlation with the occurrence of breast cancer - genetic factors.
The most well-known and most strongly associated with the occurrence of breast cancer are the BRCA1 and BRCA2 genes. These are suppressor genes, or caretakers, which take care of the genetic stability of cells. When they mutate, they lose their "skills" and this stability is disrupted. According to various studies, people with mutations in BRCA1 have a 50 to 80% risk of developing breast cancer and about 40% of ovarian cancer. People with mutations in BRCA2 have a slightly lower risk, 40-50% for the breast and 10-20% for the ovary. In these people, according to the recommendations of the Polish Society of Oncological Surgery, magnetic resonance imaging should be performed annually, which is more sensitive in detecting changes in this group. What worries us even more, these mutations also increase the frequency of unfavorable histological (tissue) types of cancer, i.e. the medullary type or the so-called triple-negative breast cancer. Why is this problem so important? It is estimated that around 150 thousand Polish women are carriers of these mutations, and at the same time this problem affects 10-20% of breast cancer patients. However, we are talking about a mutation within only two genes. Often, either the genetic mutation cannot be determined, or it concerns genes with a moderate predisposition to breast cancer (increasing the risk of the disease 2-3 times compared to people who do not have this gene mutation). In the latter case, we are talking about genes such as: p53 (mutation of this gene causes Li-Fraumeni syndrome), PTEN (its mutation results in Cowden syndrome), ATM, BRIP1, CHEK2 and PALB2.
What are the indications that genetic diagnostics is necessary? Certainly, cancer occurring in us, especially if it occurred before the age of 40. In addition, the occurrence of breast or ovarian cancer in our family, as well as cancer syndromes or a confirmed BRCA mutation in one of the family members. Bilateral breast cancer or breast cancer in a man are also atypical diseases that indicate the need for expanded diagnostics. Special cases are also types of breast cancer in the family with a poor prognosis, i.e. the previously mentioned medullary or triple negative. The last factor is Ashkenazi origin, which is associated with a very high risk of BRCA mutations.
The doctor who qualifies us for genetic testing is a clinical genetics specialist, and it is worth going to him if we suspect a BRCA gene mutation. Such a specialist takes a detailed interview about diseases occurring in our family. Remember, we have to say everything - just because two diseases seem completely unrelated to us, does not mean that they are not. There are many genetic syndromes associated with various diseases and it is important for our geneticist to know about them. Additionally, we will be asked questions about our lifestyle (typical medical interview), and the doctor may also ask about our imaging tests. At some point, things can get tricky. Because while in some provinces there is no problem with this at all and we simply wait our turn and have a full panel, in others (including mine) it is much more difficult, because one visit is a test for one gene and there are also restrictions regarding the frequency of visits. I am not sure what exactly it depends on, why it looks different in different parts of the country, but these are definitely requirements imposed from above, and you do not see the doctors. I did my time at the Genetic Clinic and after one visit I decided to use the offers of commercial genetic laboratories. Why am I writing about this? So that you are aware that if you do not get tested during one visit, it is either worth being patient with the National Health Fund or paying for the tests (approx. PLN 500 depending on the package and type of laboratory) and get it over with faster. The choice is yours.
In all the intricacies of oncology and the terrifying diagnosis of cancer, it seems comforting that this is one of the cancers in which we have well understood the environmental and genetic factors, i.e. the basis of its development, and we are able to apply the most personalized methods of treatment. However, the first step of great importance in the context of possible treatment and survival is us - how we take care of ourselves and how we examine ourselves. I believe that the guidelines of scientific societies are binding, supported by scientific evidence, and it is in accordance with them that we should implement prevention. There is no point in running scared from the oncological surgeon to the geneticist and gynecologist. Let's take matters into our own hands and examine our breasts. These often forgotten, maybe hated, heavy breasts enclosed in the most fitting underwear. Let's look at them once a month. Have our nipples changed? Are they pulled in, changed? Maybe something is leaking from them, some liquid? Do we feel changes that were not there a month ago? In the breasts, armpits? Has the skin changed color or texture? All of this matters and you are the one who can spot something wrong first.
Created at: 14/08/2022
Updated at: 14/08/2022
