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BRCA 101

WHAT is BRCA?
B-R-C-A. Bracuh. Brahcuh. No matter how you say it, we’re still talking about genes. Everyone has BRCA genes. Surprised? They are known to be tumor suppressors offering protection against BReast CAncer (do you see how they were named?) Unless, one gene is damaged or has mutated. Genes come in pairs and sometimes one (inherited from a parent) out of the two is not functioning properly causing a higher chance of developing various types of cancer. The kicker is that a gene mutation can begin in any generation.

Damage to either BRCA1 or BRCA2 gene pairs increases a person’s risk for breast, ovarian, pancreatic and melanoma cancers, as well as prostate for men. Research is ongoing about links to other types of cancer. The percentages of risk somewhat vary between the two mutations. Moreover, probable risks can differ greatly among sources. Let’s just say that the BRCA positive population has much greater risk of developing cancer than the general public.

WHO may possibly have a BRCA gene mutation?
The risk assessment for being BRCA positive seems to be largely based upon family history. Our risk was very high, and according to some oncologists, our “breast cancer is a question of when, not if” especially because our family history contained many of the following (According to www.cancer.gov):

  • Breast cancer diagnosed before age 50 years
  • Cancer in both breasts in the same woman
  • Both breast and ovarian cancers in either the same woman or the same family
  • Multiple breast cancers
  • Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
  • Cases of male breast cancer
  • Ashkenazi Jewish ethnicity

While risk varies among different ethnicities, Ashkenazi Jewish women and men have about 1 in 40 chance of carrying a BRCA1 or 2 gene mutation. For more information visit www.oneinforty.org

A person qualifies for genetic testing typically if s/he has at least 2 from the list or an immediate family member already diagnosed. The minimum age for testing is 25, otherwise my kids would already qualify!

See? It’s complicated and this was the simple version. I have yet to even mention all of the other genes associated with breast cancer protection: ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 (p53) with more being researched, according to ww5.komen.org

I’ll share about testing and then options soon, which will answer the when, where, why and how questions of BRCA.

Note: My maternal grandmother, whom we affectionately called “Nanny” would have been 96 today. She lived 62 years past her first breast cancer, 54 years past the second breast cancer and was BRCA2+!

In the meantime, what questions do you have about BRCA?

 

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