Authoritative explanation! Someone in my family has breast cancer, do I need to get a genetic test?

Mondo Health Updated on 2024-03-07

Breast cancer is the most common cancer among women in China. The 5-year survival rate of early breast cancer can reach more than 90%, but among patients with early breast cancer, 30% of patients will progress to advanced breast cancer, while the 5-year survival rate of patients with advanced breast cancer is only 20%.

Tomorrow is International Women's Day on March 8, Professor Zhang Jian, medical director of the Phase I Clinical Research Center of Fudan University Cancer Hospital and chief physician of the Department of Medical Oncology, told a reporter from Xinmin Evening News, "Breast cancer is also divided into many types, and it will be classified after diagnosis, and it will be accurately classified according to molecular typing."

Chief Physician Zhang Jian is answering questions from patients' families.

Is it inevitable to have a family history of cancer?

Xiao Wu is 24 years old this year, a few years ago, her mother was diagnosed with invasive breast cancer at an early stage, and the evaluation found that there were no axillary lymph nodes and other parts of the metastasis, and immediately underwent breast-conserving surgery; This year, his mother's sister was also diagnosed with breast cancer, which frightened Xiao Wu.

Doctor, my mother and aunt are both breast cancer patients, will I definitely get it in the future? Should I get genetic testing? "Xiao Wu is very anxious. Zhang Jian told her that breast cancer does have a clear genetic predisposition, especially among first-degree relatives. Hereditary breast cancer accounts for 55-60% of familial breast cancers, with the rest due to non-genetic factors such as the same dietary habits, life stress, and emotional state.

In general, if the mother has breast cancer, the risk of breast cancer will be 2-3 times higher for the daughter than for other women. It is wise for Xiao Wu to do genetic testing. The vast majority of mammary breast cancers have susceptibility gene mutations such as BRCA1, BRCA2 and PALB2, and Angelina Jolie discovered that she had the BRCA1 pathogenic mutation, so she had her breast removed prophylactically.

However, prophylactic excision is still controversial in China. Professor Zhang Jian said that hereditary high risk ≠ must develop the disease, and cancer is the result of the combined action of genetic factors and environmental factors. Even if you are in a high-risk group, there is no need to panic, and you can be screened early through regular mammography ultrasound, mammography or even magnetic resonance scanning.

Which breast cancer is the most dangerous?

Ms. Xia, 46, was diagnosed with breast cancer and had trouble sleeping. She said her friend died of breast cancer more than a decade ago. Zhang Jian told her that different breast cancer patients have different tumor characteristics, and the effect is also significantly different. In recent years, breast cancer has undergone earth-shaking changes, the five-year survival rate has been greatly improved, breast cancer is no longer an unstable tumor, and even advanced breast cancer, the survival period is constantly extended.

For example, HER2-positive breast cancer accounts for about 25% of the total incidence of breast cancer. Previously, patients were afraid of HER2 positivity because of the rapid progression and susceptibility to ** or metastasis. However, with the continuous advent of new targeted drugs, the survival of HER2-positive early breast cancer patients has been greatly improved. In particular, the risk is significantly reduced after anti-HER2 targeting** (including trastuzumab, pertuzumab**, etc.).

Of all the types of breast cancer, triple-negative breast cancer is considered to be the most dangerous. What is triple negative? Professor Zhang Jian said that breast cancer with negative estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) expression is not suitable for endocrine** and HER2-targeted drugs, and the previous 5-year survival rate of patients with advanced triple-negative breast cancer is less than 20%. In recent years, with the in-depth exploration of the pathogenesis of triple-negative breast cancer, immune checkpoint inhibitors represented by PD-1 L1 inhibitors have gradually occupied a place in the world.

Zhang Jian said that in 2019, the team of Professor Shao Zhimin of Fudan University Cancer Hospital proposed Fudan classification, which divides triple-negative breast cancer into four different subtypes, and further subdivides the subtypes with the deepening of research, so that more accurate plans can be adopted in the future.

Chief Physician Zhang Jian is doing rounds.

How to choose the best option for breast cancer?

For breast cancer, in addition to conventional surgery, radiotherapy and chemotherapy, patients now have more drug options. Zhang Jian said, for example, trastuzumab is the first targeted drug for specific oncogenic proteins, opening the door to targeting. Although the problem of drug resistance is unavoidable, trastuzumab is "burly" and is often rejected by the blood-brain barrier, and there is nothing to be done about brain metastases; Tyrosine kinase inhibitors (TKIs) are a good solution to this problem. In addition, the "magic bullet" of antibody-drug conjugates also has great potential for development.

BRCA1 2 mutations are more common in breast cancer, and BRCA mutant cells are highly sensitive to PARP inhibitors, which provides a completely new option. As the first PARP inhibitor marketed in the world and in China, olaparib has been written into many breast cancer diagnosis and treatment guidelines at home and abroad.

In recent years, immunology has become a hot spot in the field of oncology. Among them, immune checkpoint inhibitors have given new hope to patients who cannot benefit from conventional**. Zhang Jian explained that our immune system is similar to a defense system, which is responsible for monitoring abnormal cells in the body. However, in some cases, such as in the case of a tumor, the defense system is partially closed and "braked", at which point the use of immune checkpoint inhibitors can reactivate anti-tumor immunity and recognize and destroy tumor cells. For example, the immune checkpoint inhibitor pembrolizumab, which is an antibody to PD-1, is currently more well-documented for use in triple-negative breast cancer.

So, how can breast cancer be prevented? Zhang Jian said, "Like all tumors, primary prevention is mostly through lifestyle changes to reduce the overall incidence, including quitting smoking and limiting alcohol, reasonable diet, scientific activity, regular work and rest, relaxation, etc.; Secondary prevention includes early diagnosis and early treatment, which emphasizes the importance of early screening. He suggested that women over the age of 40 should pay attention to breast health, and can do mammography or B-ultrasound every two years, if necessary, once a year; To reduce the unwarranted intake of exogenous estrogen, use health supplements with caution.

Author: Zuo Yan (Xinmin Evening News Gold Coast Studio).

Editor: Lu Jiahui Shi Yu.

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