Sara Altschule, 31, from Los Angeles, California, USA was gifted the DNA test by her sister and couldn't resist for $75 (£57) upgrading her package to include a health report.
But she was shocked when the report came back and revealed she tested positive for a mutation in both the BRCA1 and 2 genes – increasing her risk of developing breast cancer by 85 per cent.
Sara opted to have a double mastectomy to slash this risk to lower than that of a woman who doesn't have the mutated genes.
Now three months-post surgery, she has shared her story. She told Refinery29 after receiving the shocking report she felt "depressed, scared, shocked and incredibly anxious".
"I felt like I had two ticking time bombs on my chest waiting to go off," she confessed. "Being in the BRCA club is a strange experience."
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It’s BRA Day – no, not that kind of bra. It’s Breast Reconstruction Awareness Day. Many women who have undergone a mastectomy or lumpectomy are unaware of their reconstruction options available to them. I’ve been trying to change that by openly talking about reconstruction. ~ Thankfully, there are amazing resources like, @realself and @facingourrisk that have helped me In my research before choosing which reconstruction option was best for me. ~ Breast reconstruction isn’t a one size fits all approach – and it’s not something all women choose to do either (flat and fabulous ❤️). It’s important to do your research and find which surgical treatment is best for you and your body. ~ When it comes to reconstruction: there’s nipple-sparing, skin-sparing, implants and/or flap procedures (using your own tissue), tissue expanders, direct to implant, and immediate reconstruction vs delayed. And, so many other things to consider. OY VEY! ~ I chose to do a nipple-sparing (keeping your nipples) direct to implant approach (the implant is placed immediately after the breast tissue is removed) and I couldn’t be happier. But all that matters is that you find YOUR option. ~ Pretty cool that this day of awareness falls on my three week post-op day. It’s like the stars are aligning, or in my case, the boobs are aligning. ~~~~~~~ #brca #bravingbrca #doublemastectomy #breastreconstruction #braday #breastreconstructionawareness #mastectomy #previvor #foobs #womenshealth #breastcancerawareness
She added: "You don’t have cancer yet, so you feel incredibly grateful, but at the same time, you feel like you’ve been given a death sentence."
Writing on Self, a wellness site, Sara explained how she never intended to find out the information but "a mild hypochondriac" couldn't resist upgrading for a health report.
"I took a 23 and Me test to find out my ancestry DNA and added on the health report option to my package, mostly just out of curiosity," she said.
"At the time, the health report option didn’t offer BRCA testing."
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I made it to one month! Time flies when you’re recovering. One month ago I was terrified of the unknown and now I’ve faced the unknown and it’s not that scary. ~ I knew from the moment I received my diagnosis that I was going to have this surgery. No doubt in mind. But it’s one thing to know you’re going to do it at some point in your life versus actually doing it. ~ The only thing that held me back was fear. And I knew if that was it, I needed to face it head on. ~ Here’s to giving fear the middle finger and choosing to be happy and healthy. I can’t believe I did it! ~~~~~~~~~~ #bravingbrca #brca2 #brca #breastcancerawareness #fightlikeagirl #bca #womenshealth #previvor #doublemastectomy #breastcancer #mastectomy
She continued: "But down the line, I received an email from 23 and Me announcing they received clearance for a direct-to-consumer genetic test for cancer risk, including three BRCA genetic mutations.
I felt depressed, scared, shocked and incredibly anxious.
What are the BRCA genes?
All of us have BRCA genes, and we inherit two copies – one from each of our parents.
They are called tumour suppressors, because their job is to repair damaged cells and prevent them from growing and dividing too rapidly.
Mutations in the BRCA1 and BRCA2 genes can cause cells to become abnormal, and grow in an uncontrolled way.
Mutations in the BRCA genes could increase a woman's risk of both breast and ovarian cancer.
The BRCA1 mutation is the more serious of the two – increasing a woman's risk of ovarian cancer from two per cent to 40-60 per cent, according to Ovarian Cancer Action.
While the risk of breast cancer rises from 11 per cent to 60-85 per cent.
Meanwhile the BRCA2 mutation raises a woman's risk of ovarian cancer to 10-20 per cent, and the risk of breast cancer to 45-60 per cent.
It can also increase the risk of prostrate, pancreatic and breast cancer in men.
Angelina Jolie, whose mum Marcheline Bertrand died from ovarian cancer at the age of 56, had a precautionary mastectomy and hysterectomy after testing positive for a BRCA gene mutation.
But having the mutation does not necessarily mean you will get cancer, and most cases of breast/ovarian cancer are not caused by the gene.
Here in Britain, only one in 400, or one in 800, people carry a BRCA1/2 gene mutation.
But the stats are higher in people with Ashkenazi Jewish, Polish, Pakistani, Dutch, Icelandic, Norwegian and Swedish heritages.
If you're a carrier, either male or female, there's a 50 per cent chance of you passing the mutation onto one of your kids.
Doctors test for BRCA gene mutations using a blood test, which is then analysed in the genetics lab.
Tests should be offered to patients whose risk of being a carrier is 10 per cent or more, according to NHS England guidelines.
If you have a personal or family history or ovarian and/or breast cancer, you may be offered a test.
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