Test introduction Detection advantage Testing process For people
Technical brief

Breast cancer closely related to BRCA1/2 gene

1. Breast cancer is a malignant tumor with the highest incidence among Chinese females

512: daily number of people diagnosed with breast cancer in China.

131: daily number of people who die of breast cancer inChina.

More than two-fold: growth rate of breast cancer morbidity in China and around the world; particularly in urban areas.

45-55: average age when Chinese females are diagnosed with breast cancer; earlier than females in western countries.

2. Mutation of BRCA1/2 gene causes higher risk of breast cancer

Both BRCA1 and BRCA2 are the genes in human genome that produce tumor suppressor proteins. If the specific locus of BRCA1/2 gene changes, its tumor suppressor protein changes accordingly, and normal DNA repair function is limited. As a result, cells tend to accumulate harmful DNA damage, which eventually leads to occurrence of cancer.



3. Breast cancer patients carrying BRCA1/2 mutant gene are more likely to experience cancer recurrence

According to results of retrospective studies at a single center, the risk of breast cancer recurrence on the same side and opposite side for the group with BRCA1/2 mutant gene differs significantly from that for the group without mutant gene.

4. BRCA1/2 gene and familial inheritance of breast cancer

Breast cancer caused by BRCA1/2 gene mutation exhibits the tendency of familial aggregation. If one party of both parents carries gene mutation, the mutation is 50% likely to entail the offspring.

If a breast cancer patient is found to have BRCA1/2 gene mutation, the close relatives of the patient should take BRCA1/2 gene test to know if they are also carriers of BRCA1/2 gene mutation. This helps choose targeted risk control schemes.

Content of the test


Gene sequencing technique is adopted to comprehensively detect BRCA1 and BRCA2 (16,000 basic groups in total) for hereditary mutation related to breast cancer.

Significance of the test

1. Significance for breast cancer patients:

1) Identifying gene mutation carrying status of breast cancer patients;

2) Providing reference for evaluating breast cancer patients’ risks of recurrence;

3) Providing reference for determining whether relatives of breast cancer patients face risks of breast cancer. 

2. After being detected as carriers of BRCA1/2 mutant gene, ordinary people can take many methods to control the risk of breast cancer. 

1) Physical checkup: If one starts physical screening of breast cancer earlier than others and receives such screening more frequently, the chances of detecting breast cancer at an early stage are higher, and therefore timely treatment is possible;

2) Chemical prophylaxis: refers to the technique of using medications that lower risks of cancer and delay cancer recurrence;

3) Preventive operation: operation during which the most possible tissues at risk are removed. This minimizes risks of cancer occurrence.


Technical advantages

The test makes it possible to achieve early discovery, prevention and intervention of hereditary breast cancer

BRCA1/2 gene test of breast cancer is a program introduced by Annoroad to evaluate risks of breast cancer for the group susceptible to hereditary breast cancer.

Adopting new generation of sequencing technique and bioinformatics analysis, the test can comprehensively detect BRCA1/2 gene mutation and leads to early discovery, prevention and intervention of hereditary breast cancer, thus preventing or slowing down the occurrence and development of breast cancer as well as lowering rates of morbidity and mortality.



Testing process

The test report will be issued in 15 days after the laboratory receives the sample.


Matters needing attention for the test

1. Fasting is not required before blood drawing. Keep normal diet and rest. 

2. If the subject has history of hematopoietic stem cell transplantation or blood transfusion in the past 3 months, results of the gene test for peripheral blood may not be reliable.


For people

The following groups are recommended to take BRCA1/2 gene test:

1. Individuals with blood relatives who are carriers of BRCA1/2 gene mutation;

2. Breast cancer patients whose age of onset is less than or equal to 45;

3. Male breast cancer patients;

4. Breast cancer patients with one or more close relatives in the family who have breast cancer;

5. Breast cancer patients with past medical history or family history of ovarian epithelioma, fallopian tube cancer or primary peritoneal cancer.

Note: Individuals with history of hematopoietic stem cell transplantation or blood transfusion in the past 3 months are advised against taking the test.


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