What is BRCA1 & BRCA2?

BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two) have become commonly known as the breast cancer genes.

The purpose of the BRCA genes is to ensure that breast cells grow normally and to prevent cancer cell growth.

When the BRCA genes inherit mutations passed down through family generations that prevent them from functioning, the risk of breast cancer increases.

5% of breast cancers are caused because a faulty BRCA1 or BRCA2 gene has been inherited. Breast cancer is a common disease though, and it is not unusual for more than one family member to be affected. When we assess the risk of a family having a genetic cause for their breast cancer, there are a number of factors we need to take into account.

Age at diagnosis

The younger someone is when they develop breast cancer, the more likely it is to be an inherited disease. If you have more than one close relative who developed breast cancer before the age of 50, there may be a breast cancer gene mutation.

Pattern of inheritance

Breast cancer genes are passed from parent to child. You can inherit them from either your father or mother. Therefore, if we see breast cancer in several generations (e.g. daughter, mother and grandmother), we are more suspicious of an inherited gene defect.

Other cancers

Breast cancer genes are associated with other cancers, particularly ovarian cancer. If you have a relative with ovarian cancer as well as relatives with breast cancer, there is more likely to be a genetic cause.

Some other cancers are also associated with breast cancer, so it is important to have as full a family history as possible.

If there is a man in the family who has had breast cancer, this is very suggestive of a particular breast cancer gene defect.

Signs & Symptoms of BRCA1 & BRCA2

Commonly, the first signs and symptoms of BRCA1 & BRCA2 is a lump in the breast, which is usually painless. Other signs of breast cancer include an area of thickened tissue, a change in breast shape or size, a change in the nipple or nipple discharge, and puckering or dimpling of the skin of the breast.

Treatment for BRCA1 & BRCA2

Treatment for BRCA1 & BRCA2 includes surgery, chemotherapy, radiation therapy, hormonal therapy, and targeted therapies including Herceptin.

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