Common genes associated with breast cancer include BRCA1, BRCA2, TP53, ATM, NF1, NBS1, etc. Among them, BRCA1 and BRCA2 gene mutations are closely related to breast cancer risk, and women with these gene mutations have a significantly increased risk of breast cancer.
Breast cancer genetic screening refers to the detection of mutations in breast cancer-related genes to assess an individual's risk of developing breast cancer and provide auxiliary information for clinical decision-making.
What does breast cancer genetic screening involve?
Genetic screening for breast cancer is usually done with a sample of blood or saliva. BRCA1 and BRCA2 are the best-known breast cancer susceptibility genes, and specific mutations carrying these genes are 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 variants in these genes at the same time.
For example, pathogenic germline mutations in genes such as TP53 and PALB2 are also associated with genetic susceptibility to breast cancer. Conditions of ER (estrogen receptor), PR (progesterone receptor), and HER2 (human epidermal growth factor receptor 2) can help assess patient prognosis and guide treatment. Ki-67 is a marker of cell proliferation, and its expression levels are associated with aggressiveness and prognosis of breast cancer. The level of PD-L1 expression may correlate with the effect of immunotherapy.
Multiple gene expression profiling tests, such as OncotypeDX (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-stage breast cancer. PIK3CA, NTRK fusion, MSI-H/dMMR, and TMB assays may be associated with specific targeted therapy or immunotherapy suitability.
Who needs genetic screening for breast cancer?
Genetic screening for breast cancer is mainly aimed at high-risk groups:
The first is people who have a family history of breast cancer, especially if there are multiple family members with breast or ovarian cancer, especially if it occurs at a younger age.
In addition, testing for BRCA1/2 mutations may be necessary in people with a family history of specific hereditary cancer syndromes, such as hereditary breast-ovarian cancer syndrome.
There are also people with a history of chest radiotherapy, particularly those who have received chest radiation therapy before the age of 30 years.
Note: Genetic screening should be performed under the guidance of a medical professional 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 be tested for breast cancer susceptibility genes:
01
The age of onset of breast cancer ≤ 45 years
02
The age of onset of breast cancer is between 46~50 years old
and meet one of the following conditions:
(1) Unknown or limited family history;
(2) multiple primary breast cancer (metachronous breast cancer or concurrent breast cancer) with onset of any age;
(3) There are blood relatives who have breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer at any age.
03
Breast cancer onset age ≥ 51 years and one of the following:
(1) Close relatives who are related by blood meet the following conditions:
(1) Male breast cancer with onset age ≤ 50 years old or any age;
(2) ovarian cancer with onset at any age;
(3) pancreatic cancer with onset at any age;
(4) Metastatic prostate cancer or high-risk prostate cancer of any age.
(2) A total of 3 breast cancer patients, including probands and close relatives, were ≥.
(3) Among the close relatives≥ there were 2 patients with breast cancer or prostate cancer.
04
Breast cancer with onset of any age:
(1) Triple negative breast cancer;
(2) Lobular breast cancer patients with a history of diffuse gastric cancer in themselves or in their families.
What are the symptoms of the breast that need to be treated in time?
When there are abnormal symptoms in the breast, it may indicate that there is an underlying health problem in the breast, and it is recommended that once these symptoms are found, they should be seen as soon as possible for examination and diagnosis so that appropriate treatment can be taken in time.
Breast lumps: 80% of breast cancer patients are diagnosed with a breast lump for the first time. The lump is usually painless, but a few may be accompanied by a dull or stabbing pain.
Skin changes: Breast cancer can cause skin changes such as the "dimple sign" (small dimples in the skin of the breast) or "orange peel changes" (many small dots in the skin of the breast).
Nipple and areola abnormalities: If the tumor is located at or near deep into the nipple, it may cause nipple retraction.
Axillary lymphadenopathy: Breast cancer may initially present as ipsilateral axillary lymphadenopathy, which may gradually fuse and fix as the disease progresses.
Breast pain: Breast pain can be related to the menstrual cycle, but persistent or severe pain is a cause for concern.
Nipple discharge: Bloody discharge, especially one, can 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: Locally raised or sunken breasts, and in advanced stages, the skin may have orange-peel changes or even foul-smelling ulcers.
What problems can I pay attention to to prevent breast-related diseases?
In life and work, it is necessary to pay more attention to diet, living habits, psychological adjustment and regular examination, which can effectively reduce the occurrence of breast diseases.
Reduce your intake of high-fat, high-sugar and fried foods and eat more whole grains, soy products, fresh fruits and vegetables. Eating fiber-rich foods such as broccoli, carrots, apples, etc., can help maintain breast health.
Supplement with vitamins and foods rich in vitamin E and B groups, such as nuts and whole grains. Control your alcohol intake and limit your consumption of stimulant beverages such as coffee.
At the same time, by controlling weight, maintain a healthy body mass index (BMI), because for every 5% increase in body mass index, the mortality rate of breast cancer increases to varying degrees.
Do not smoke, refuse second-hand smoke, insist on physical exercise, regular physical exercise, and enhance physical fitness.
Avoid excessive tension, cultivate optimism, and sulk less. Maintain a good mood and avoid being in a stressful and depressed state for a long time.
Pay attention to the cleanliness and hygiene of the breasts in life, especially during breastfeeding. Wear a bra correctly, avoid chest binding during the breast development stage, and wear a suitable bra in time to avoid affecting the normal development of the breast. Develop the habit of regular self-checks to detect abnormalities in time.
Author: Du Boran, Beijing Obstetrics and Gynecology Hospital, Capital Medical University
Editor-in-charge: Dong Xiaoxian