Due to my "young" age in getting Ovarian cancer and my mom's and brother's cancers, they did some genetic testing for a gene mutation that dramatically increases risks of Ovarian, Breast, Pancreatic and Prostate cancers.
(Most cancers are "sporadic" which just occur by chance. There is also "familial" which means there are genetic and environmental risks factors and you see multiple relatives with the cancer -- but no specific link to a gene. And then there is "hereditary" which is when an altered gene is passed down through the family.
In my case they were looking for a mutation in BRAC1 or BRAC2. If I carried it my brothers and sisters and their children would have a 50% chance of carrying it. (Boys can be the carrier of it too.) So this was good news for all of us.
From the genetic testing packet:
"Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an inherited condition that
causes an increased risk for ovarian, breast, pancreatic and prostate cancer. The vast
majority of hereditary breast and ovarian cancer is due to an alteration or gene mutation
in either the BRCA1 or BRCA2 genes. These gene mutations can be inherited from either
your mother or father.
Normally, the proteins produced by the BRCA1 and BRCA2 genes prevent cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-strained DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, greatly increases the probability of malignant transformation and cancer."
Example: If you have this mutated gene a woman has an 87% chance of getting breast cancer and a 44% chance of Ovarian cancer by the age of 70. (General population has an 8% chance of getting breast cancer and less than 1% chance of getting Ovarian Cancer.) And it significantly increases the chance of recurring cancers.
If you have it they will do increased screening and start at younger ages, have certain medications they would have you take or some people might even get a mastectomy and hysterectomy for prevention.
I really thought my testing was going to come back positive and when it didn't cried for the 2nd time this week -- this time happy tears. (And I have to apologize to my mom -- I thought for sure she had passed along this gene to me.) I realize this doesn't mean that when I beat this thing I won't ever get breast cancer or have an ovarian recurrence... psychologically it just takes some worrying pressure off.
A small part of me was a little ticked -- knowing that not having this gene meant that I had a "less than 1% chance of getting ovarian cancer and yet lucky me got it.
But I won't dwell on that. I'll dwell on the Yeah for no BRAC gene mutation and hoping that this means my nieces and sisters will not be at so high of risk for the nasty stuff mom and I were "lucky" enough to get.
1 comment:
That is good news!!!
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