Can my cancer be hereditary?

Can my children inherit my cancer?

Can I have a genetic inheritance that causes the disease to return in a few years?

Can my siblings have the same as me?

If my mom or dad had cancer, what is my risk?

Before the diagnosis of cancer, the questions multiply.

The possibility of having a certain genetic predisposition to develop one or more types of cancer is one of the issues that raises the most questions.

In her second book,

, Daniela Hacker, a journalist specialized in access to health issues, tries to offer answers to these questions, but also to others that usually appear in the sick person and their environment: how Is the patient contained?

how is it accompanied?

what is expected in the waiting room?

How is the relationship with the doctor?

Is there room for sexuality?

How does cancer affect the family economy?

"You have already received the diagnosis, you have already found a medical team and you do the indicated treatments, but there are things that you feel and experience that you do

or are common to all the other patients," says Hacker in the introduction.

Thus, he differentiates this new book from the first,

, in which, through interviews with doctors and patients, he narrated the myths that surround the disease -which is not one, but many-, the difficulties in accessing the treatments, the shock of diagnosis.

"If I had to define it (that first book), it talks about 

," he says.

"7 keys to get through cancer goes one step further and talks about

," he says.

"Dig into the most entrenched taboos and their most contradictory feelings. Inquire about sexuality in the midst of treatments and body changes and delve into the feelings of patients: guilt, depression, anxiety and sadness."

Like the first - which had more than 10,000 downloads and was declared of interest to health by the Legislature of the City of Buenos Aires - it

and had the support of All.Can Argentina and Argentina Pharmexx.

"The text is based on

that reflects the experiences of patients and family members in the face of the various challenges generated in a diversified, asymmetrical society with inequities from access to information to the right to receive dignified and fair care", describes the oncologist Matías Chacón, from the Alexander Fleming Institute, in the prologue.

Below,

reproduces with the authorization of the author,

of

.

The book is free to download.

Can my cancer be hereditary? 

With the disease come doubts, fears and questions.

For this reason, certain patients and sometimes their close relatives are indicated for

.

These studies

and are not performed in all cases.

To perform them, there must be a medical indication and, of course, a health system that covers it.

The medical oncologist and genetic consultant in oncology Dr. Luisina I. Bruno explains that: "Cancer, in general terms, is a group of diseases that in 90% of cases occurs due to non-inherited causes

"

It all depends on the scenario or clinical situation of the person or patient but, in most cases, it is possibly linked to the environment and age.

The environmental issues that might be involved may be known—such as smoking or obesity—but it is believed that most are still unknown.

When we have a close relative with a cancer diagnosis —and particularly if they have become ill at a young age (generally before the age of 50)— an alert arises, because an increased risk of having the disease has been documented at some point. time in life compared to people who do not have a close family history of cancer.

For this reason, it is recommended that when faced with

or more than one case of the same type or associations of cancer in the same family branch —for example, breast and ovarian cancer, prostate and/or pancreas or colon cancer and /or endometrium—, a genetic counseling consultation in oncology is carried out.

This type of consultation

.

It is a prevention tool that people voluntarily choose to perform or not.

The probability of detecting a mutation that explains the family picture is approximately between 5 and 15%.

"Ideally, this consultation should be carried out by the person who has fallen ill. In this way, it can be clarified whether or not they are a carrier of a hereditary syndrome and the benefits of knowing it have to do with prevention for that person and their family. Even today there is the possibility of targeted treatments that are already approved in the country. Also, if you are identified as a carrier of a

, healthy relatives can be checked and find out if they have inherited the same mutation," adds the medical specialist in genetic counseling Bruno.

"Based on the result, it will be decided if they should take preventive measures that are different from the rest of the population or, on the contrary, if they have not inherited it and it is appropriate to continue with the usual controls."

The doctor asked me for a genetic analysis to have more information about the treatment and to find out if there was something hereditary that I could know to be attentive to my son's health.

Social work covered only 30 of the markers that the doctor requested, but I decided to pay the rest —despite its high cost— to have the complete report.

The result was that it was not hereditary cancer and I lived through it calmly.  

Patient with metastatic ovarian cancer

For her part, the biochemist specialized in genetics Ángela Solano gave the well-known case of Angelina Jolie as an example:

"The actress was an example of a preventive attitude, since she decided to undergo the removal of 'healthy' organs but carriers of the pathogenic variant inherited from her young deceased mother of ovarian cancer - a pathogenic variant that her deceased aunt also carried for breast cancer breast, inherited from one of his grandparents. The pathogenic variant is in one of the BRCA1 or BRCA2 genes —discovered in 1994 and 1995—, which are currently considered biomarkers and have specific medication for patients with tumors carrying some pathogenic variant.

"In hereditary cancer, prevention is crucial when the person is 'healthy' (in quotes because they carry the pathogenic variant that can trigger the tumor)."

—Is genetic studies also recommended for older people?

Dr. Ángela Solano: What matters is the age of diagnosis, since the patient could have had a very young cancer and have continued with his life, with which it is totally valid to carry out the study at any age.

If, on the other hand, the diagnosis was made at an older age but there is a family history of the disease, it also makes sense to perform it, although it will not be an ideal index case, since it may be a sporadic cancer or the result of risk in the general population.

People with a family history of cancer usually start controls earlier.

Illustration Shutterstock.

Are there communities at higher risk of hereditary cancer?

Not all communities have the same frequency of mutations.

"The Ashkenazi Jewish population and, to a lesser extent, the Sephardic, have a higher frequency of cancer susceptibility mutations, specifically in the

, which are two genes linked to a greater predisposition to breast, ovarian, prostate and pancreatic cancer" .

The doctor Luisina Bruno explains that: "Three frequent or 'founder' mutations have been detected in the population of Ashkenazi Jewish origin (two in the BRCA1 gene and one in the BRCA2 gene), which are detected in this population with a frequency of one case per 30 to 40 people compared to one case per 200 to 400 in people of no Jewish ancestry.

"But it is not the only community that presents

in the BRCA1 and BRCA2 genes: this situation has also been described in the populations of Poland, Norway, Iceland and even in a region of Mexico. This type of founder effect has also been described for other genes, such as the CDH1 gene —which predisposes to lobular breast cancer and diffuse gastric cancer— with a founder mutation in families of Maori origin in New Zealand," adds Bruno.

My treatment began with the mastectomy.

Then, the genetic analysis —covered by my prepaid after a detailed report from the geneticist doctor.

I belong to the Ashkenazi Jewish community which is at particular risk.

I tested positive for CHEK2, a rare minority gene —I'm always in the minority— that doubles my chances of developing breast cancer compared to people without this mutation, so a preventive mastectomy was determined. the other mom

Then, I received 25 sessions of radiotherapy every day from Monday to Friday, plus medication and injections in the abdomen to wipe out estrogen.

Now I carry out annual control studies that include tomography of the brain, thorax, abdomen and pelvis.

Also scintigram, cardiac and gynecological studies and bone densitometry.

breast cancer patient

Genetic predisposition does not necessarily imply the development of the disease.

Illustration Shutterstock.

 What kind of results are obtained from genetic studies? 

Bruno reports that "in the genetic counseling consultation, the patient together with the doctor draw up a family tree with all the medical information they know about the family and with this it is

germinal genetic test.

In addition, it is decided which are the genes that must be analyzed in that individual and his family.

The test is carried out through a

and what is sought is if a considerable and permanent change appears in a gene that prevents its 'protective' or tumor suppressor function: in this case we speak of mutation or better said 'pathogenic variant'.

Germ genetic studies seek to verify whether or not a person's genes have some important change or mutation compared to what is already known as normal gene sequence or information.

"We can have

- that's where diversity comes from - and not be related to a disease, therefore the interpretation of a result should always be carried out by a professional."

Bruno explains that the results of a genetic study can then be:

1. Mutation detected or "positive"

: the predisposing cause was found and the preventive and therapeutic recommendations are adjusted.

2. Undetected mutation or "non-informative" study

: The reason why that person became ill has not been detected.

Given this result, an attempt is made to study other affected people in the family, prevention recommendations are made based on the history of the family tree, and periodic contact with genetic specialists is suggested, in case larger studies emerge in the future.

3. "Variant of uncertain significance":

these are infrequent changes, with low or intermediate suspicion of pathogenicity and that are often linked to simple ethnic diversity.

What to do with a positive result?

Once the person has made the decision to carry out the genetic study and in the cases in which it is a positive result, they are faced with different options depending on what is detected.

Women

"In the case of healthy women carrying mutations in the BRCA1 and BRCA2 genes, it should be taken into account that they have a

of developing breast cancer at some point in their lives - calculating a life expectancy of 75 years, the lifetime risk is 50 to 75% compared to a 10 to 12% risk in a woman without a mutation."

This risk begins at an early age, around 20 to 25 years of age.

For this reason, it is suggested to be aware of this situation at the beginning of adulthood and start with evaluations

from the age of 25, adding the annual mammogram at age 30 —unless there were cases before the age of 30 in the family — and continue this strict control at least until the age of 75.

Another alternative is

.

It is considered an alternative to intensively performed breast imaging control studies because up to now none of them have been shown to be superior in a fundamental point for preventive decision-making, which is the decrease in mortality from breast cancer. mother.

Risk-reducing breast surgery is

in terms of decreased chance of disease.

In the decision, the risks according to age are evaluated with each woman and attempts are made to address her expectations, her fears, her relationship with her body and her sexuality so that decision-making is as appropriate as possible.

Women with these mutations also have a high risk of

(15-45%) compared with the general population, in whom the risk does not exceed 2-3%;

this means a risk of cancer 10 times greater than that of the population without the mutation.

The increased risk of ovarian cancer (13 to 58%) when there is a mutation is different depending on whether it is the BRCA1 gene (which begins to be considered from 35 to 40 years) or the BRCA2 gene (between 40 and 45 years).

"Given that there are no truly effective imaging methods for the prevention of ovarian cancer, and that preventive ovarian surgery—or risk-reducing bilateral salpingo-oophorectomy—has been shown to significantly reduce ovarian cancer mortality and mortality in In general, in women who are carriers, it is suggested to plan a risk-reducing surgery —that is, the removal of both fallopian tubes and both ovaries—", explains the medical specialist in genetic counseling Luisina Bruno.

"This is done after the parity wishes have been met, but ideally from the intervals mentioned for each particular gene." 

Men

Dr. Bruno points out that: "It must be remembered that, if they are carriers of any of the BRCA1 or BRCA2 genes, they have a higher risk of

compared to non-carriers, but it is also important to note that they can develop prostate cancer more aggressive but potentially curable if detected early. For this reason, it is essential that they carry out controls with PSA and digital rectal examination and from younger ages, generally from 40 years of age".

"Breast cancer in men is an infrequent situation, since it affects less than 0.5% of men. But if this history exists in a family, genetic counseling followed by germline genetic testing is recommended, given that modifies preventive measures in their female relatives. In addition, recently, controls have also been suggested for healthy male carriers of BRCA2 gene mutations who have a family history of males affected by breast cancer."

Knowing that you are a carrier of a gene mutation, can it modify the cancer treatment?

Testing for the BRCA1 and BRCA2 genes is also useful as a 'biomarker' to select targeted treatments in patients with certain tumors.

Drugs called PARP enzyme inhibitors (for its acronym in English) are useful in patients carrying mutations in the BRCA1 and BRCA2 genes who have been diagnosed with locally advanced or metastatic breast cancer, ovarian, prostate or pancreatic cancer.

"Since the field of

is constantly evolving, information about whether a patient is diagnosed with cancer and is a carrier of a susceptibility gene may also be useful for the patient to participate in the development of new treatments." in clinical trials," adds Bruno.

Who can access genetic studies?

Access will depend on the Latin American country and the coverage of each patient.

Biochemist Solano reports that: "In Argentina, for example, although there are official recommendations, medical practice guidelines, and studies that show that performing genetic studies is a cost-effective and cost-saving strategy in families with a family history of cancer , the coverage

and, therefore, it is not mandatory for any prepaid or social work, nor is it contemplated by the Mandatory Medical Plan (PMO)".

Therefore, doctors must make the medical request together with a

and request a special evaluation through the medical audit route on a case-by-case basis, so that the study is considered an exception.

It will then be key how the treating physician indicates the study with the appropriate foundation.

This means that it is not uncommon for social works to authorize genetic studies if the medical request is well-founded, clarifying personal and family history of the disease.

It is important to include in the indication, when applicable, that

.

It should not be considered a luxury, but a necessity.

In addition, it must be emphasized that for each index case there may be many relatives who will pay 10% of the value of the study that the first relative who was studied invested and that this positive result for the pathogenic variant is valid for all relatives of the same branch of any degree.

The study of a relative is conclusive.

In the event that the pathogenic variant is positive, you will have the possibility of

[a cancer] early based on decisions such as surgeries or frequent check-ups.

In the negative case, he is freed from anxiety, since the disease predisposition was not inherited in the branch of the individual studied and does not transmit it.

"Unfortunately,

and the few that do have to do in general with the urgency of targeted treatments or surgical strategies," adds Solano.

What are the advances in genetics?

Solano indicates that: "Advances in genetics and genomics are very dynamic: it is fair to describe them as extraordinary. The first big boost was given by the Human Genome Project (HGP), which in 2001 published the first ' complete sequence' and in 2021 he finished sequencing the entire genome, including very difficult areas. This advance is extremely important, since it will provide us with the answers to almost all unknowns."

"Currently, genetic and genomic analyzes range

—this means that the negative has no uncertainty—we hope that soon they will all reach 100% certainty."

"Latin America is a fairly unprotected region in many aspects, including the treatment of diseases. A genetic study that avoids chemotherapy and in family members even the appearance of cancer should be included in health coverage when needed. This is not it happens, sometimes, not even in the 'first world', although there is much more availability than in Latin America."

"The scientific action of sharing data (data sharing) is fundamental. For example, in Argentina, there is the

to encourage professionals to deposit data in databases that are freely accessible. It is a generous activity and crucial for everyone working in genetics and genomics," added Solano.

"It is important to note that the advancement in technology has led to a very noticeable decrease in costs; the reason is because of the number of simultaneous analyzes that can be processed. In addition, bioinformatics has a lot to do with it, because it allowed the interpretation programs of files are available anywhere in the world."

To read the full book,

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