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Writer's pictureIntersex Sarah

BRCA2 Discovery

Updated: Sep 29, 2020


A couple of years ago I had a pain in my right breast for quite a while so I booked an appointment with my GP to get it checked out properly.


During the appointment the GP wasn’t overly happy with what she was feeling so she recommended that I go and see a specialist at the Royal Marsden in Sutton, Surrey.


To summarise - they did a scan, which showed there was nothing wrong or to be concerned about.


Following the discussions with the GP and the specialist they advised it might be a good idea to speak to a geneticist in regards to the family history.


My Grandmother and Aunty on my fathers side have both had breast cancer and my father has tested positive for the BRCA2 gene mutation, which increases the risk of breast/prostate cancer:

“Inherited mutations in the BRCA2 gene also increase the risk of several other types of cancer, including pancreatic cancer and an aggressive form of skin cancer called melanoma. These mutations impair the ability of the BRCA2 protein to help repair damaged DNA.”

It was mentioned a few years ago, when my father initially went for his test, but at the time I was not interested in going for this test.


However, the incident with my breast made me reconsider this and I decided that actually knowing is better than not knowing.


Following this I was booked in to have a blood test, where they performed a Karyotype test, which is used to:

“identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions.”

Following on from this test it was discussed about how we move forward and various options were discussed - the two that were viable for me were surgery, i.e. a Mastectomy (removal of the breasts) - which is the most extreme; or surveillance, which is less invasive and requires an annual test and check-up: MRI up to 35, then an MRI and/or Mammogram up to 40 and then a Mammogram thereafter.


The geneticist was very interested to learn of my Turners Syndrome, as it is considerably rare to have two genetic mutations/abnormalities. There was even mention of writing up my case for the medical/scientific journals.


Usually they would recommend that women with a BRCA2 mutation to have an oophorectomy at 40 years old, as a precautionary measure to reducing their chance of getting ovarian cancer. Due to my previous gonadectomy surgeries, this was less of a concern; however, ovarian cancer can also start in the Fallopian tubes, so it was proposed that we should investigate the possibility of having a salpingectomy:

is the surgical removal of one (unilateral) or both (bilateral) fallopian tubes. Fallopian tubes allow eggs to travel from the ovaries to the uterus. A partialsalpingectomy is when you have only part of a fallopian tube removed.”

With the assistance of UCLH, it took over six months to track down my medical records for the gonadectomies which were done at aged 6 weeks and 9 months at Great Ormond Street Hospital - for them to contain very little information - once we did track them down they were inconclusive.


The only way to know and find out is to do a laparoscopy (a surgical diagnostic procedure used to examine the organs inside the abdomen) and if they are present do the salpingectomy and remove them.


I will be posting more updates and even some vlogs on my laparoscopy/salpingectomy experiences.

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