Genetic Lottery

Tonight the Mega Millions jackpot is $640 million.  In general, I think people who buy lots of lottery tickets are just suckers.  Although, it is hard to resist when the jackpot is this big.  The chances of winning the lottery are so low; to me, it never seems worth it to play. 
When I received my report from Myriad Genetic Laboratories indicating that I am positive for the 187delAG BRAC1 mutation, I read the fine print below the result.  The first thing that stuck out to me was an almost 90% chance of getting breast cancer.  So my standard line when telling people about this was, “If someone told me I had an almost 90% chance of winning the lottery, you bet your ass I’m going to buy some tickets.  So, if I have an almost 90% chance of getting breast cancer, I’m going to be lopping these puppies off.”

I think it’s about time I included some facts on here.  The genetic report says (prepare yourself for the scientific stuff, skip ahead after the next paragraph for my layman’s breakdown):

 “…studies in high-risk families indicate that deleterious mutations in BRCA1 may confer as much as an 87% risk of breast cancer and a 44% risk of ovarian cancer by age 70 in women (Lancet 343:692-695, 1994).  Mutations in BRCA1 have been reported to confer a 20% risk of a second breast cancer within five years of the first (Lancet 351:316-321, 1998), as well as a ten-fold increase in the risk of subsequent ovarian cancer (J Clin Oncol 16:2417-2425, 1998).  This mutation may also confer an increased (albeit low) risk of male breast cancer (Am J Hum Genet 62:676-689, 1998), as well as some other cancers.  Each first degree relative of this individual has a one-in-two chance of having this mutation.  If this individual is of Ashkenazi Jewish ancestry, it is recommended that follow-up testing of relatives of this individual include analysis for the mutations 187delAG, 5385insC, and 6174delT because of reports of coexistence of two high-frequency germline mutations in some Ashkenazi families (Ramus SJ etal, Nature Genetics 15:14-15, 1997).”

So basically what that text said to me was that I have:
– almost 90% chance of getting breast cancer
– 44% chance of getting ovarian cancer
– 20% chance of getting a 2nd breast cancer within 5 years of finding the first
– ten times as likely to get another ovarian cancer

It also said:
– the men in my family (if positive and so far we only know about my dad) have a low, but increased risk of male breast cancer
– there are risks of other cancers (I’ve heard colon, prostate, melanoma, etc.)
– since I’m Ashkenazi, everyone in my family should get tested

I may not have won the genetic lottery, but who has?  Some may argue Charlotte Casiraghi.  She’s 4th in line to the thrown of Monaco, she’s beautiful, has a fabulous fashion sense, is accomplished equestrian, the list goes on.  She’s got everything to be thankful for, genetically speaking, but who knows what life is really like for her?  She’s followed by paparazzi, she’ll never know if someone loves her for her or for her money, and she lost her father at age 4.  Tragedy has followed her family for decades.  Even when you think someone has won the genetic jackpot, there may be more than meets the eye. 

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One thought on “Genetic Lottery

  1. Thanks for sharing all the facts. I hope people – not just women – read your blog and take action. I have been on the fence but no longer. I'm going to get the test. There s so much to be gained- and, yes, some to be lost, but if it saves my life, I will grin and bare it!

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