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Genetic Testing

Put pink in your presents this Christmas

Monday, December 17th, 2007

Can’t figure out what to get that special survivor in your life? Think out of the box — the greatest gifts will let her know you think about this illness that has become a part of her lifeimages_1.jpeg

How about a mammogram? Gift wrap an appointment card and put it in with a gift card bag. She’ll appreciate knowing that you’re taking your health seriously because of her.

What about genetic testing? A mother can do this for her daughter, a daughter can do this for her sisters, a husband can do this for his wife and kids (yes, even men should consider this test if breast cancer runs in their family).

Coupons to cut? I’m sure you crafty guys and gals could make a coupon book offering up rides to/from appointments, babysitting when she wants to drive herself, company when she doesn’t want to be alone. Use your scrapbooking/craft supplies and make it personal and pointed.

Of course, you can always hit up the Pink Ribbon shop or Presents for Purpose. Nothing like a pink ribbon somethin’ under the tree!

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BRCA1 Research Update and Triple Negative Breast Cancer

Monday, December 10th, 2007

I’m continuing my research into the research findings I reported earlier. Here’s more information for you:

90% of breast cancers in women with BRCA1 mutations are not estrogen receptive or progesterone receptive and they test negative for an over expression in the HER2 gene — this is called a ‘triple negative’ in breast cancer speak. Triple negative breast cancer sounds worse than it is — there’s good news and bad news associated with this diagnosis.

The bad news is that HER2 negative breast cancer is thought to be particularly aggressive and ER/PR positive cancers feed on the naturally occurring hormones in your body. While there are drugs available to women who are HER2 positive (Herceptin) and ER/PR positive (Tamoxifen and Aromatase Inhibitors), there’s nothing yet for the women who is triple negative.

However, triple negative breast cancers do really well with chemotherapy. Really well.

Anyway, all this says to me … it is so important for researchers to keep up their efforts. It matters to the triple negative woman. It matters to all women.

BRCA1 Research Update

Monday, December 10th, 2007

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Researchers have known for years that women with BRCA1 gene mutations were at high risk for breast cancer. What they haven’t known is how or why that is the case.

But now, researchers have observed that mutations in the BRCA1 breast cancer seem to be linked with the loss of a protein that impedes cell growth. A collaborative team at Columbia with Sweden’s Lund University have found that a mutated BRCA1 gene can leave cells “incapable of repairing routine DNA damage. When such damage occurs in a protein called PTEN, which regulates the growth of cells, cell growth is unchecked and tumors form.”

Their job now is to take this a step further … how can they pharmacologically or biologically increase that protein and/or repair that DNA damage to prevent those tumors from growing?

I find this particular research study so inspiring — but there are other research studies (like this one) also getting us closer to a cure. Thank you, thank you, for all your hard work!

About Discussing Breast Cancer

Discussing Breast Cancer is the place for survivors, their friends and family members to turn for information that will empower them to navigate through the storm they may find themselves in before, during or after a breast cancer diagnosis.

Many of the posts are about the author's personal experience as a two time survivor. In addition, Discussing Breast Cancer is loaded with timely news and information about the disease, it's symptoms, diagnosis, and treatment. It will also reference the myriad of sites, individuals and organizations that either raise money and/or awareness for the cause or in some way contribute to researching a cure or serving breast cancer survivors worldwide.

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