Doctor explains BRCA1 & BRCA2 genetic testing for inherited breast and ovarian cancer...

In this video Doctor O'Donovan explains the BRCA1&2 genetic test.

The genetic code of two genes; the BRCA-1 and BRCA-2 genes will be analysed in detail to look for alterations (mutations) that are linked with an inherited tendency to breast and ovarian cancers. Most cancers will not be explained by such an alteration, but approximately 5% of all breast cancers have developed on the background of an inherited BRCA mutation. The inheritance of such a mutation is associated with a younger than average diagnosis of breast cancer (often, but not always below the age of 50, and sometimes as young as 30), so that a strong family history of young onset breast and ovarian cancer should alert the clinician to the possibility of a BRCA mutation. Note most clinical genetic services in the UK will have referral guidelines delineating the degree of family history and NICE has issued guidance about management of such families.

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Disclaimer:

The video is intended as an educational resource only. The information within this video or on this channel isn't designed to replace professional input, so if you have any medical issues please consult a medical provider. No professional relationship is being created by watching this video. Dr. O’Donovan cannot give any individual medical advice. All information should be verified for accuracy by the individual user. Dr O’Donovan accepts no responsibility for individual interpretation of data, although it is always accurate to the best of his knowledge at the time of the video being published.

[thewrngchild]

I've just been tested and received a positive result. My Czech mum's side of the family descends from Ashkenazi Jews. People of Ashkenazi Jewish descent are the highest risk racial group for the BRCA 2 mutation, which me, my sister, and my mum all have. There are other racial groups who have a higher risk as well, and depending on where you and your family originate from, variations in the mutation of these two BRCA 1 and BRCA 2 genes.

One of the biggest concerns for me at age 37, and even more so my mum at age 76 is the pancreatic risk. I lost my biological father to cancer when he was 44 in 1991. However, when he was diagnosed, the medics just told him that because he was a smoker he was done for (me, my mum, and my sister do not smoke, and do not consume any alcohol), and sent him home to die basically. Me and my sister have always insisted that due to his symptoms, his primary cancer was pancreatic which spread to his liver. My dad, as far as we know, and we know very little about his side of the family, did not have Jewish descent. Not knowing for sure his primary cancer has always bugged me due to the genetic risk.

There is a history of pancreatic cancer, pancreatitis and diabetes on my mum's side of the family as well, however we do not know of any women (or men) who had breast or ovarian cancer. My grandma on my mum's side had diabetes type one, my Auntie has diabetes, my uncle who we lost recently had type two diabetes (partly brought on by a bad lifestyle), me, my mum and my sister all suffer with hypoglycemia symptoms, although I have got mine under much better control with diet, and some of our relatives abroad also have and did have these conditions.

Whilst I know there is no screening program available for pancreatic cancer at this time, I will now be super aware of any symptoms, pancreas, ovarian or breast. My choices are probably going to be different than they are for most people, because on top of this, I also have Autism and a past history of addiction and extreme 'episodes' of severe anxiety caused by many medications, so any kind of surgery, specially ovary removal and sudden menopause, may not be an option for me. I don't know yet, we are still in the early stages, I only received my results on Saturday.

Be aware of your body, women and men should check their breasts at least once a month, BRCA mutation or not, and report any changes to your GP pronto. Don't ever be embarrassed to talk about periods, wee, poo or any body areas or bodily functions, it might just save your life!

[cristellmartin]

Very well explained 👏, I appreciate you Doctor

[pushpapatel]

Really helpful information explained very nice. Sir, Thanks. May God Bless You with Eternal Happiness.

[marchaniford]

We all carry the BRCA1/2 genes, it is mutations in the genes that increase the risk of breast and ovarian cancer

[nelliel.]

My grandma died from breast cancer and I don’t know if I should be tested for brca genes.Im worried and scared 🥺

[Punkydoodle]

I just received my grandmother's death certificate and found out she died from ovarian cancer. She died many years ago at the age of 58. Should I be tested?

[Thippesh-oz]

Is HRD test different from BRCA test. I have got negative for HRD. What does it mean

[dmcundiff]

I had triple negative breast cancer when I was 26. I'm now 45. Would it be worth it to ask my PCP to request a test? I have been told it would be hard to get an insurance company to approve it as preventive care.

[bdboricua]

Not sure if you check comments but what is the earliest\youngest can be given test? 10 yr old?