BRCA Gene Mutation — Post 2

Okay, here is the promised Part 2 of my Heredity Cancer Clinic visit.

I wanted to break this post down and provide an extensive overview of the BRCA1/BRCA2 gene mutations, but I don’t have enough time, or quite frankly, enough brain power to get it all down on paper right now, so I’m gonna cheat and share a link from the National Cancer Institute … more information than you probably care to know about the mutations, but read it if you have a family history of cancers, especially breast cancers!

http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

Here is the gist of it – if  you have a BRCA mutation, that means that you would have inherited a damaged gene, increasing the likelihood of developing cancer at a much earlier age (or just in general), because your DNA is already “handicapped!”

You would have inherited it from either your mom or your dad.  If you have the gene, there is then a 50% chance that you will pass it on to any children you may have, and then a 50% chance that they will pass it on to their children, and so on…

So here is a chart of my family history that was shared at our appointment-

  • I am the bottom circle with pink (Candace 29) …
  • my mom is the circle above me (53y)
  • females=circle/male=square …
  • cancers = color

When my mom was diagnosed for the first time with breast cancer in 1986, the doctors didn’t really discuss whether or not it was genetic.  By the third time she was diagnosed, they were starting to wonder, but a clear pattern could not be seen in her family line, especially in terms of breast cancer.

Researchers now know that there are other cancer risks that are increased with the BRCA gene mutations though, particularly ovarian, prostate and pancreatic.

So here’s where it gets interesting:  several years after my mom’s most recent occurrence, my grandpa was diagnosed with pancreatic cancer (square with green).  His father  had also died of cancer (primary origin, unknown, could it have also been pancreatic or prostate?  Square with grayscale at top of chart).  Upon further reflection, relatives informed my mother that her great grandma (not on chart)  had ALSO died of cancer…and guess what…at a very young age!!  Could she have had breast cancer?

Because there were no women in that direct line between my mom and her great grandmother, is it possible that the gene remained hidden (or rather, disguised in other cancers in the men of the family)?  We’ll likely never know, but I hope to know soon about my results.  If I test positive, my mom will then be tested.

More information to come later on this topic, but we’ll leave it at this for now.

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About Candace

Stay at home mom of three small kids (3, 2, and almost 1) -- about to embark on the biggest journey of my life.
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3 Responses to BRCA Gene Mutation — Post 2

  1. Robin King says:

    Good explanation, Candace! Have you thought about a career in genetic counseling? =)

  2. M. Todd Thayer says:

    Candice:

    May the God who heals all comfort and heal you!

    Love,

    M. Todd Thayer

  3. Pingback: Praise Report – BRCA 1 – Part 4 | Great is Thy Faithfulness

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