Additional tools against breast cancer

More than two million people are diagnosed with breast cancer every year. As with other types of cancer, the incidence of breast cancer has increased, and breast cancer continues to be the leading cause of cancer death among women in countries such as Spain. However, in recent years, the number of treatments has increased and survival rates are increasing.

Isabel Chirivella, clinical director of the medical oncology service and head of the hereditary cancer unit at the University Teaching Hospital of Valencia, and Maite Martinez, oncologist specialized in breast cancer and hereditary cancer at the same hospital, are well aware of the latest advances in the treatment of breast cancer and hereditary cancer in the same hospital. breast cancer. On the occasion of next World Breast Cancer Day, we spoke to both experts to find out how diagnoses and treatments have changed, and what the outlook is for the coming years. His goal is clear: to achieve 100% patient survival.

30 years of genetic diagnosis of breast cancer

The current breast cancer scenario is far from what it was 30 years ago when genes were first sequenced. BRCA1 And BRCA2the first genes associated with hereditary cancer. Gene identification BRCA This meant radical change. “Breast cancer is very common in the population, but there are families where there are many cases of breast cancer,” emphasizes Isabelle Chirivella. “Until now it was not known what the cause was, and since these genes were discovered, BRCA1 And BRCA2We were able to find out which families are at increased risk of developing breast cancer and what needs to be done to diagnose it at an early stage.”

BRCA1 And BRCA2 They were the first, but not the only, genes associated with breast cancer. Since 1994, various genomic studies have aimed to genetically characterize breast cancer. The acquired knowledge is gradually being introduced into clinical practice and into genetic studies of breast cancer patients. “Since 2019, in the Valencian Community we have already been conducting research using gene panels that include not only BRCA1 And BRCA2but there are other high risk genes for breast cancer, such as PALB2 and others, that pose a lower risk, but a higher risk, than in the general population. Knowing these new genes helps us families identify risk and tailor follow-up measures for early diagnosis,” says Chirivella.

Family history is a key element in suspecting hereditary cancer

Hereditary breast cancer accounts for a small proportion of breast cancer cases, about 5% of cases. However, its impact on families is very great. As a result, many women whose mothers or sisters have had breast cancer wonder or worry whether it may be hereditary cancer. “We are often asked this question during consultations,” says Maite Martinez. “That’s one of the concerns that patients have, especially because they’re going through this, but they’re concerned that their family members are going through the same thing.”

Among the requirements that a patient with breast cancer must meet to suspect a hereditary component is a family history. “This is very important, and we ask about this in all consultations,” Martinez emphasizes. “If certain criteria are met, that’s when blood testing is considered.”

Inherited mutation testing is performed on blood cells because all cells in the body carry risk mutations. In the case of non-hereditary cancer resulting from mutations in breast tissue cells, the genetic analysis is different. Moreover, with this type of somatic cancer, genetic changes that may characterize the tumor are not passed on to family members.

From oncology to precision oncology

Oncology was one of the first medical fields to adopt precision medicine and one of the specialties that adopted genomics most rapidly.

“Oncology today has nothing in common with what it was 20 years ago when I graduated,” says Isabelle Chirivella. “Today, in almost all tumors, a search is being conducted for genomic profiles, molecular changes that will differentiate the types of breast cancer. The oncologist, in addition to oncology, had to study many different things. This is no longer just about examining the patient and getting to know the clinic. You must know the molecular aspects. At the end of the day, this is interdisciplinary work.”

This evolution in oncology has had a marked impact on the way we approach patients with breast cancer. “We know that every patient is different, every tumor is unique, and the more information you have about these tumors, the better you can treat them using the best tools,” emphasizes Maite Martinez. “In recent years we have learned more about tumors at the genetic level, we have learned more about patients, for example whether they have family genetic changes… and all this has allowed us to provide much more accurate data, more targeted treatments for this goals will ultimately increase survivability.”

Added to the information provided by a tumor’s genomic characteristics is the influence that the patient’s genome may have on response to treatment. “Sometimes patients respond differently to treatment, and we know that if there is a deficiency of some type of gene, the toxicity can be greater,” says Isabelle Chirivella. “Treatment becomes more precise.”

More and better treatments for breast cancer

Thanks to advances in recent years, 100% of breast cancer cases are now curable and it is one of the cancers with the longest survival time. “In terms of recovery, today we are moving between 85 and 90%, which is very high,” points out Maite Martinez. “The goal is to achieve this 100% for all patients.”

Treatment options are varied, many of which specifically target specific molecular changes. Among them are hormone therapy and immunotherapy, aimed at enhancing the immune response against the tumor. “If the tumor expresses hormone receptors, I know that I need to give hormonal treatment. If it expresses a membrane protein called HER2, I will have to give it my targeted drugs, trastuzumab, pertuzumab. We are able to increase survival rates in breast cancer because what the tumor expresses is directly attacked,” emphasizes Maite Martinez.

“Twenty years ago, when we had three or four courses of chemotherapy, it has nothing in common with what we have today,” emphasizes Isabelle Chirivella. “And there are more and more clinical trials of new drugs,” Martinez adds.

Angelina Jolie and Elle Macpherson are two very different examples of the influence of famous figures on breast cancer awareness and visibility.

As with other diseases, various personalities and celebrities have contributed to raising awareness and awareness of breast cancer. Isabel Chirivella and Maite Martinez note that the case of Angelina Jolie was very helpful at that time. The famous actress’s mother and grandmother had breast cancer, and a genetic test revealed that she was a carrier of a risk mutation. In a controversial decision because she was healthy at the time, Jolie decided to have surgery to remove her breasts and ovaries.

“For a lot of people, knowing that a famous person did it gave them insight,” Chirivella says. “This has helped us raise awareness of the importance of genetic testing and preventative measures to avoid getting this cancer. Also to show that what was being offered in Spain was the same as what they were offering in the US.” “Whenever someone famous makes a good decision, it really helps patients with their decision making or lets them know that they are not alone, and this can also happen to a very famous person,” Martinez says.

The recent case of Elle Macpherson is something else. In her biography, the model wrote that she was diagnosed with HER2-positive intraductal carcinoma and that after surgery to remove the tumor, she decided, against expert advice, not to receive chemotherapy.

Maite Martinez notes that the appearance created by MacPherson is the opposite of that created by Angelina Jolie. “If we focus on what has appeared in the media, and she actually has intraductal carcinoma, it is considered a precancerous lesion and therefore does not require chemotherapy,” Martinez says. “I think it creates a lot of doubt in patients and does not bring any benefit to society. This creates doubts, such as: “If several experts told her to do it and she decides not to do it, can I trust what they tell me?” If it is truly carcinoma in situ, it does not require chemotherapy because it is not cancer per se.”

Favorable prospects for breast cancer treatment

Evolution in the field of oncology and in the diagnosis, early detection and treatment of breast cancer, as well as the advancement of more precise treatments tailored to the specific characteristics of each tumor, indicate favorable expectations for patients in the coming years.

“I see a very positive future for patients. Everything changes a lot in a year. Clinical trials show that one drug is more effective than another,” says Martinez. “Every day, as I tell patients, there is something new. We have more and more tools to fight cancer. I see a very positive future for patients, and that’s with the intention of achieving a 100% cure.”

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