Monday, July 21, 2014

Breast Cancer Prevention, Part 1
Natasha Ratajczak, PT, DPT

In the last month and a half, my mom has gone through receiving the diagnosis of stage 1 breast cancer 75% chance stemming from genetic etiology, undergoing a radical mastectomy and getting bilateral breast reconstruction, all in what feels like the blink of an eye. It all has left me amazed, incredibly grateful and completely humbled by how far technology has come and how strong and graceful my mom has handled everything thus far.

A little back story: my maternal grandmother passed on after breast cancer metastasized into her liver, lungs and bones in the mid 1990s. Several years later, my mom’s sister developed breast cancer early on in her right breast. She had a lumpectomy, then went into remission. The cancer returned in the following years so the doctors and my aunt decided to remove the breast. Unfortunately, the cancer returned in the other breast this year, so she had the second breast removed right about the same time as my mom began her journey (btw, my mom found her own lump by doing a regular monthly self-exam that she had done for years...she rocks!). Both women are currently recovering, but they are both proceeding with caution.

I am extremely grateful for and extremely proud of these strong women in my life. And because I now know how quick this type of cancer can occur and progress, I wanted to write up this blog post to give a little more background information to the men and women out there who have been affected by as well as may have breast cancer in their family DNA.

First off, breast cancer occurs like other cancer: it is an abnormal growth of cell tissue that comes from the genes that are supposed to help the tissue stay regulated and healthy. Therefore, “breast cancer” is caused by a malignant tumor that has developed from breast tissue. (Please refer here for current staging of breast cancer.)

Of course, you’ve probably noticed that breast cancer is embedded in my family history; my sister and I have discussed the potential of having inherited a genetic mutation, and are wondering the next steps to take for prevention for ourselves. Here are some interesting statistics that I found while doing my research:

1. About 5-10% of breast cancers can be linked to gene mutations (abnormal changes) inherited from one’s mother or father. Mutations of the BRCA1 and BRCA 2 genes are the most common. Women with a BRCA1 mutation have a 55-65% risk of developing breast cancer before age 70, and often at a younger age that it typically develops. For women with a BRCA2 mutation, this risk is 45%. An increased ovarian cancer risk is also associated with these genetic mutations. In men, BRCA2 mutations are associated with a lifetime breast cancer risk of about 6%; BRCA1 mutations are a less frequent cause of breast cancer in men.
2. About 85% of breast cancers occur in women who have no family history of breast cancer. These occur due to genetic mutations that happen as a result of the aging process and life in general, rather than inherited mutations. The two highest risk factors for breast cancer are gender (women >>men) and age (increased risk comes with growing older).
Given our family history, my sister and I have decided to undergo genetic testing, because after speaking with my mom’s physicians, they have told us that we each have 50% chance of having the mutation. Although you should know that there are also screening tests that can be done for early detection. These screening tests include yearly mammograms, and are usually given to those individuals who appear to be healthy and have no history of breast cancer. If an abnormality is found, then tests (usually a biopsy) are done to the abnormality to determine if the tissue is benign or malignant.
As mentioned above, there are two genetic mutations that can be tested for: BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2). Mutations in these genes that are supposed to keep breast cells growing normally can lead to increased risks in malignant tumors in breast as well as ovarian tissue (or prostate tissue in men). Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases. For more information about genetic testing please visit here.
I encourage you to please pay attention to your breast tissue. Start regular monthly self-exams to learn about your tissue enough to detect when something does not feel right. Also get your mammograms done yearly, even if you are not at risk. In my next blog posting, I will address more preventative options for all of you when contemplating breast cancer as I continue by my mom’s side on this journey.
Tune in to the next few posts for more on breast cancer prevention!
More information can be found at