Familial breast cancer, by definition, that is, with a familial aggregation of breast cancer. In 1990, King found that about 20% -25% of breast cancer patients have at least one relative with breast cancer, he defined this part of the familial breast cancer, breast cancer. In other words, there are two with a family member related by blood, suffering from breast cancer, can be referred to as familial breast cancer.
With a clear genetic factors of breast cancer known as hereditary breast cancer. Hereditary breast cancer accounts for 5% of the entire breast cancer population -10%. The majority of hereditary breast cancer have a familial aggregation of belonging to familial breast cancer; but a small part of the hereditary breast cancer in the epidemiological distribution of the performance are sporadic without family history. This may be due to mutations in genes associated with breast cancer carried by male family members, but can not form of breast cancer phenotypes. Most of the hereditary breast cancer and BRCA-1 and BRCA-2 related. Now known breast cancer susceptibility gene BRCA-1 and the addition to BRCA-2, there are p53, PTEN and so on. Mutations in these genes associated with breast cancer have been classified as hereditary breast cancer. Studies have shown that at home and abroad, BRCA1 gene and our familial and early-onset breast cancer, there is a certain correlation to the BRCA1 gene mutation detection of high-risk groups will help assess the risk of breast cancer.
To date, have been reported germline mutations in BRCA1 gene and multi-state over more than 1500 kinds. Study confirmed that Chinese women with familial breast cancer genes BRCA1 germline mutation rate of 8% ~ 10%, while the BRCA1 gene has a germline mutation in the risk of breast cancer for women 60% to 80%, which is the risk of the general population about 10 times.
Through a family history of breast cancer patients and their normal female members of the BRCA1 gene germline mutation is beneficial found to carry BRCA1 gene mutations in a normal female members, and through carrying BRCA1 mutations in high-risk populations rigorous follow-up and monitoring, is conducive to early detection of breast cancer, early diagnosis and early treatment, to gain a better therapeutic effect.
