Updates from Lara: BRCA1 & BRCA2

HER2-positive breast cancer: What is it?

HER2-positive breast cancer is a breast cancer that tests positive for a protein called human epidermal growth factor receptor-2 (HER2), which promotes the growth of cancer cells. In about one of every three breast cancers, the cancer cells make an excess of HER2 due to a gene mutation. This gene mutation can occur in many types of cancer — not only breast cancer.

HER2-positive breast cancers tend to be more aggressive than other types of breast cancer. They're also less responsive to hormone treatment. However, new treatments that specifically target HER2 are proving to be very effective:

Trastuzumab (Herceptin). Herceptin, which specifically targets HER2, kills these cancer cells and decreases the risk of recurrence. Herceptin is often used with chemotherapy. But it may also be used alone or in combination with hormone-blocking medications, such as an aromatase inhibitor or tamoxifen. A study published in 2005 found that Herceptin can reduce breast cancer recurrence by as much as 50 percent. Herceptin is usually well tolerated, but it does have some potential side effects, such as congestive heart failure and allergic reaction. This drug is also very expensive.

Lapatinib (Tykerb). Like Herceptin, Tykerb is a HER2-specific drug. Approved by the Food and Drug Administration in 2007, Tykerb may be effective for HER2-positive breast cancer that doesn't respond to Herceptin.

Monday, June 29, 2009

BRCA1 & BRCA2

I just found out that I don't have BRCA1 or BRCA2 mutations... yay!

That's great news for my sisters and daughter!! And, will mean I don't need to be proactive in protecting myself against ovarian cancer. (The fewer number of surgeries, the better!) =)

Here's some info on BRCA1 and BRCA2:

BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors.

In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell’s genetic material (DNA) and help prevent uncontrolled cell growth. Mutation of these genes has been linked to the development of hereditary breast and ovarian cancer.

The names BRCA1 and BRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively.

A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Such a woman has an increased risk of developing breast and/or ovarian cancer at an early age (before menopause) and often has multiple, close family members who have been diagnosed with these diseases. Harmful BRCA1 mutations may also increase a woman’s risk of developing cervical, uterine, pancreatic, and colon cancer. Harmful BRCA2 mutations may additionally increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma.

According to estimates of lifetime risk, about 12.0 percent of women (120 out of 1,000) in the general population will develop breast cancer sometime during their lives compared with about 60 percent of women (600 out of 1,000) who have inherited a harmful mutation in BRCA1 or BRCA2. In other words, a woman who has inherited a harmful mutation in BRCA1 or BRCA2 is about five times more likely to develop breast cancer than a woman who does not have such a mutation.

Lifetime risk estimates for ovarian cancer among women in the general population indicate that 1.4 percent (14 out of 1,000) will be diagnosed with ovarian cancer compared with 15 to 40 percent of women (150–400 out of 1,000) who have a harmful BRCA1 or BRCA2 mutation.