Is it true that breast cancer runs in the family? The truth about genetic screening is...

Common breast cancer genetic-related genes include BRCA1, BRCA2, TP53, ATM, NF1, NBS1, etc. Among them, BRCA1 and BRCA2 gene mutations are closely related to the risk of breast cancer , and women carrying these gene mutations have a significantly increased risk of breast cancer.

Breast cancer gene screening refers to the assessment of an individual's risk of breast cancer by detecting mutations in breast cancer-related genes and providing auxiliary information for clinical decision-making.

What does breast cancer genetic screening include?

Breast cancer genetic screening usually requires a blood or saliva sample. BRCA1 and BRCA2 are the best-known breast cancer susceptibility genes, and carrying specific mutations in these genes is associated with a significantly increased risk of breast and ovarian cancer. In addition to BRCA1 and BRCA2, there are other genes that may also be associated with an increased risk of breast cancer.

Multi-gene panel testing can detect mutations in these genes simultaneously.

For example, pathogenic germline mutations in genes such as TP53 and PALB2 are also associated with genetic susceptibility to breast cancer. The status of ER (estrogen receptor), PR (progesterone receptor), and HER2 (human epidermal growth factor receptor 2) can help assess the patient's prognosis and guide treatment . Ki-67 is a cell proliferation marker whose expression level is associated with the aggressiveness and prognosis of breast cancer . The expression level of PD-L1 may be associated with the effect of immunotherapy .

Multi-gene expression profiling tests, such as Oncotype DX (21-gene recurrence risk assessment) and MammaPrint (70-gene test), can help assess the risk of recurrence and the benefit of chemotherapy in patients with early breast cancer . PIK3CA, NTRK fusion, MSI-H/dMMR, and TMB testing may be associated with the suitability for specific targeted therapy or immunotherapy.

Which groups of people need to undergo breast cancer gene screening?

Breast cancer gene screening is mainly for high-risk groups:

The first is people with a family history of breast cancer , especially if multiple family members have had breast or ovarian cancer, especially if it occurred at a younger age.

In addition, BRCA1/2 gene mutation testing may be necessary for people with a family history of specific hereditary cancer syndromes , such as hereditary breast and ovarian cancer syndrome.

There are also people with a history of chest radiotherapy, especially those who have received chest radiotherapy before the age of 30.

Note: Genetic screening should be performed under the guidance of professional medical personnel and should not be over-interpreted.

According to the "Guidelines for Breast Cancer Screening in Chinese Women (2022 Edition)", the following groups of people need to undergo breast cancer susceptibility gene testing:

0 1

Breast cancer onset age ≤ 45 years

0 2

The age of breast cancer onset is between 46 and 50 years old

And one of the following conditions is met:

(1) Unclear or limited family history;

(2) Multiple primary breast cancers (metachronous breast cancer or synchronous breast cancer) occurring at any age;

(3) A close relative has been diagnosed with breast cancer, ovarian cancer, pancreatic cancer, or prostate cancer at any age.

0 3

Breast cancer onset age ≥ 51 years and meets one of the following conditions:

(1) A close relative with a blood relationship who meets the following conditions:

① Breast cancer onset age ≤ 50 years or male breast cancer onset at any age;

②Ovarian cancer of any age;

③ Pancreatic cancer of any age;

④ Metastatic prostate cancer or high-risk prostate cancer at any age.

(2) A total of ≥ 3 breast cancer patients, including the proband and close relatives.

(3) There are ≥ 2 close relatives with breast cancer or prostate cancer.

0 4

Breast cancer at any age:

(1) Triple-negative breast cancer;

(2) Patients with lobular breast cancer who also have a history of diffuse gastric cancer or a family history of diffuse gastric cancer.

When should you seek medical attention promptly due to breast symptoms?

When abnormal breast symptoms occur, it may indicate potential breast health problems. It is recommended that once these symptoms are discovered, you should see a doctor as soon as possible for examination and diagnosis so that appropriate treatment measures can be taken in time.

Breast lumps: 80% of breast cancer patients present with breast lumps for the first time. The lumps are usually painless, but a few may be accompanied by dull pain or tingling.

Skin changes: Breast cancer may cause skin changes such as the "dimple sign" (a small depression in the skin of the breast) or "orange peel" (many small dot-like depressions in the skin of the breast).

Abnormalities of the nipple and areola: If the tumor is located deep in or close to the nipple, it may cause nipple retraction.

Swollen axillary lymph nodes: In the early stages of breast cancer, the symptoms may be swollen axillary lymph nodes on the same side. As the disease progresses, the lymph nodes may gradually fuse and become fixed.

Breast pain: Breast pain may be related to your menstrual cycle, but persistent or severe pain is cause for concern.

Nipple discharge: Especially bloody discharge, may be an early symptom of breast cancer.

Symptoms of mastitis: such as breast tenderness, increased local skin temperature, redness, swelling, heat, pain and other inflammatory reactions.

Changes in breast appearance: The breast may become partially bulging or sunken. In the late stage, the skin may develop orange peel-like changes or even ulcers with a foul odor.

What issues should we pay attention to in daily life to prevent breast-related diseases?

In life and work, we need to pay more attention to diet, living habits, psychological adjustment and regular check-ups to effectively reduce the incidence of breast diseases.

Reduce the intake of high-fat, high-sugar and fried foods, eat more whole grains, soy products, fresh fruits and vegetables. Eating foods rich in fiber, such as broccoli, carrots, apples, etc., helps maintain breast health.

Take vitamin supplements, and appropriately take foods rich in vitamin E and B, such as nuts and whole grains. Control alcohol intake and drink less stimulating beverages such as coffee.

At the same time , control your weight and maintain a healthy body mass index (BMI) , because for every 5% increase in body mass index, the mortality rate of breast cancer will increase to varying degrees.

Do not smoke and refuse secondhand smoke. Stick to physical exercise and do it regularly to strengthen your physical fitness.

Avoid excessive tension, cultivate an optimistic mood, and be less sulky. Keep a good mood and avoid being in a state of high stress and depression for a long time.

Pay attention to breast hygiene in daily life , especially during breastfeeding. Wear bras correctly. Avoid binding during breast development and wear appropriate bras in time to avoid affecting normal breast development. Develop the habit of regular self-examination to detect abnormal conditions in time.

References:

[1]Xie Xing, Kong Beihua, Duan Tao. Obstetrics and Gynecology (9th Edition)[M]. Beijing: People's Medical Publishing House, 2018: 238-246.

[2] Chinese Society of Research Hospitals Breast Specialty Committee Chinese Female Breast Cancer Screening Guidelines Development Expert Group. Chinese Female Breast Cancer Screening Guidelines (2022 Edition) [J]. Chinese Research Hospitals, 2022, 09(02): 6-13.

[3] UPTODATE [DB]. http://www.uptodate.com/

Author: Du Boran Beijing Obstetrics and Gynecology Hospital, Capital Medical University

Editor: Dong Xiaoxian