The Genetic Counseling and Family Breast Cancer Unit

Whenever you have concerns about the possibility of suffering from hereditary cancer or not, you can go to a Genetic Counseling consultation where they will explain what it is to have a predisposition to cancer and the actual chances that you will suffer from it.

At the Genetic Counseling consultation, the family cancer specialist will explain what having hereditary cancer consists of, its implications on a personal and family level, and how to deal with this diagnosis.

The first step in any Genetic Counseling consultation is the compilation of all information about the patient’s personal and family history. This is a veryimportant step, as it will be the basis for making many important decisions. Therefore, when you come to this consultation, you should try to remember and collect all the data you have about the different events in your family, related mainly to cancer.

Based on this first consultation, the specialist will guide you on whether or not to have a genetic test to try to rule out the hereditary origin of cancer in your family.

If a genetic study is indicated, our specialist will explain not only the implications that the possible test results may have for you, but also for your family.

Only when you have all the information about the possible results of the test, and once all your concerns have been resolved, will you be able to decide whether or not you want to do it.

It is important for patients with a mutation to understand all the information about their particular case in a clear and easily understandable way. The staff must explain what it means to be a carrier of a mutation, what implications it has for their health, how it can affect their relatives and, mainly, what can be done from now on to prevent the appearance of cancer or so that if it appears it can be diagnosed at an early stage.

Once the patient has been properly counseled by a family cancer specialist and has understood all the information, theywill be able to decide how they want to face their future.

We should seek the help of a family cancer specialist when the following situations occur in the same family:

– Breast or ovarian cancer in a person under 35 years of age, with no family history.
– Male breast cancer at any age.
– Breast and ovarian cancer in the same person.
– Breast or ovarian cancer in at least 2 first-degree relatives, as long as one of them is under 50.
– Bilateral breast cancer.
– Three or more cases of breast or ovarian cancer in first or second-degree relatives, regardless of age.
– Detection of a mutation in a direct relative.
– Women of Ashkenazi Jewish descent with a family history of breast or ovarian cancer.

Regardless of these criteria, do not hesitate to consult your doctor if you think that your family history may pose hereditary risk or if you have any questions about Hereditary Cancer.

BRCA1 and BRCA2 are genes involved in cell growth and division. An alteration (mutation) in any of these genes would interfere with the regulation of these cellular functions, therefore increasing the probability of developing cancer. Only about 5 to 10 percent of all breast and/or ovarian cancers are inherited. This assumes that the vast majority are therefore sporadic, that is, they occur without any hereditary cause behind them. Out of the cases that are inherited, nearlyone third are due to mutations in the BRCA1 gene and about one third are due to mutations in the BRCA2 gene. The remaining group is due to one or more unknown genes. Individuals with a mutation in any of these genes can develop cancer at an early age and can develop bilateral breast cancer.

BRCA1 and BRCA2 are genes involved in cell growth and division. An alteration (mutation) in any of these genes would interfere with the regulation of these cellular functions, therefore increasing the probability of developing cancer. Only about 5 to 10 percent of all breast and/or ovarian cancers are inherited. This assumes that the vast majority are therefore sporadic, that is, they occur without any hereditary cause behind them. Out of the cases that are inherited, nearlyone third are due to mutations in the BRCA1 gene and about one third are due to mutations in the BRCA2 gene. The remaining group is due to one or more unknown genes. Individuals with a mutation in any of these genes can develop cancer at an early age and can develop bilateral breast cancer.

Being a carrier of a genetic mutation does not mean that you will get cancer for sure, but that you have a greater risk than another individual of the same age and race of developing one or more cancers.

About 12% of the women in the population will get breast cancer sometime in their lives. According to the latest estimates, 55 to 65% of women who inherit a harmful BRCA1 mutation and 45% of women who inherit a harmful BRCA2 mutation will develop breast cancer by the age of 70.

Members of the same family who have inherited the same mutation may suffer from breast cancer, others may have ovarian cancer, while others do not develop any cancer throughout their lives, even if they are carriers.

In general, a genetic test consists of a blood test that will look for possible alterations in some genes that, today, are known to be related to an increased risk of suffering from some diseases, including some cancers.

Before undergoing any study, it is important that the possible benefits of the study have been well understood, as well as its limitations and risks.

The test can provide a positive result, that is, a mutation has been found in one of the two genes that we know leads to an increased chance of developing breast and/or ovarian cancer throughout life.

The test can provide a negative or indeterminate result, which can mean several things:

– It may mean that there is a mutation in BRCA, but that current techniques cannot detect it.
– It may be that the test foundone or several variations in the gene, but we do not know if any of these variants or the sum of them may be responsible for family cancers.
– It may mean that a gene other than BRCA1 or BRCA2 is responsible for cancers in the family, but today, not knowing what that gene is, it cannot be studied and therefore the responsible mutation cannot be detected.
– It may mean that cancer in this family is not actually hereditary, but due to chance, since breast cancer is the most frequent cancer in women. Thus, there could be several women from the same family affected by breast cancer and not due to hereditary causes.

It would be interesting to continue investigating other breast cancer genes in the families in which we did not find a mutation but did present an important aggregation of cancers in the family,to try to reach some conclusion.

There are several options to manage risk in mutation carriers, but the most important thing is to know that, since there is no cancer at the time of detection of the mutation, we have time to reflect on the pros and cons of the different options and make the best choice in each case.

One of the options is to include these women in our high-risk follow-up program.

Another option is risk reduction surgery. With this measure we intend to reduce the risk of developing breast and/or ovarian cancer by removing the target organ. This measure is more radical, but it is also the only one that is currently approved to reduce these patients’ risk of suffering cancer.

Chemoprevention aims to prevent the onset of cancer by taking certain drugs. Taking tamoxifen after having breast cancer significantly reduces the risk of a second tumor appearing in the other breast, or reproducing it, in some women. But there is insufficient data to ensure that tamoxifen will lower the occurrence of breast cancer in women who have not had it before and who are only carriers of a mutation.