Can the BRCA gene be detected via a breast lump biopsy?

[Anothershittydayinparadise]

I've been left a little confused following a consultation today with a hospital menopause specialist.

I am 52 and have been struggling with perimenopause symptoms. I have endometriosis, adenomyosis and have been left with a failed uterine ablation which has complicated matters. An added complication is the fact my 81 year old mother was diagnosed with breast cancer (IDC) last year. My GP and my endo gynae both felt they weren't experienced enough to advise me about my hrt options so referred me to this specialist.

When I explained my health issues and my mum's diagnosis she asked about family. Mum is an only child but I explained that she had two female cousins on my grandmother's side who have/had BC. She advised me against hrt for the time being and has asked me to find out if my mum has the BRCA gene. She said the breast clinic will know this from the results of my mum's breast lump biopsy and to contact the department to find out.

I've never heard of this, I was unaware they could find this out this way? Does anyone know if this is correct?

No. They would know the type of cancer from the biopsy but it’s a blood test via the genetic counselling service that would give the brca diagnosis.
unless services/dianostics have dramatically changed in the last 7 years.

(just fyi I have brca 1 positive and have had breast cancer and am on hrt)

You would need a blood test that would be analyzed by a geneticist.

Ask for a referral.

You can ask for a referral to the genetic counselling clinic. They will send you a big form to fill in. After analysing it they will look at whether your family history makes you more at risk, BRCA is not the only gene now thought to be involved. The age at which your DM was diagnosed does suggest that you are not likely to be carrying the gene but that would be for the geneticists to determine.
Only a very small number of breast cancers are due to genes and they are constantly looking for new ones.
Our local breast cancer service run a family clinic for women with immediate family members of breast cancer patients.

My DSis was diagnosed at 34 and I had screening from my lat 30s. DSis didn’t have the BRCA gene. I did develop post menopausal BC but it was just seen as coincidence since our overall chance of being diagnosed is 1 in 7. Being a woman makes the risk quite high even without the gene.

Mine developed after starting HRT, I had 3 yearly mammograms from 38- 57 and started HRT after my mammogram at 53 which was clear.

There is a known slight increase in breast cancer as a result of taking HRT, as a breast cancer sufferer you just tend to meet them all on support sites for those of us with breast cancer.

Well theoretically they could find out, but thats not how it works for genetic testing in the NHS. All non research labs are set up to do it via a blood sample, which is a slightly different process than via a tissue sample (from a biopsy)

No. However if your mum only developed breast cancer at 80 they will not have tested her for it as the concern about BRCA is aggressive cancers, including breast, in young people.

If your mum's cousins are a similar age at first diagnosis they could also be ruled out as a cause of concern.

A different way to find out is private pay genetic testing. Additionally, I did a 23&me test and bought the medical screening add-on. BRCA was one of many tests screened for.

I have the Brca for both breast and ovarian. I had blood tests to confirm mine. Was over 12 years ago or more. Went through my GP who referred me to a genetics clinic. Mother and maternal grandmother and great grandmother had breast cancer at some point and two died of ovarian in 40s. I had my ovaries out in my 40s and have yearly MRI scans and mamograms since my 40s too. Mid 50s now. Was not allowed HRT. I know I got an appointment quite quick but it was just before Angelina Jolene talked about it and I know a lot of people asked to be refereed then and a big waiting list. I would speak to your Gp.

Just so you know, 23andMe only looks for a number of specific BRCA1/2 variants found in Ashkenazi Jewish and certain other populations (it’s in their small print but hard to find among lots of small print). It is also frequently wrong, since they use a technology that is very unreliable. No one should ever take a 23AndMe as reassurance they don’t have a genetic predisposition to breast and ovarian cancer.

With respect to testing unaffected relatives in general. We all have millions of genetic variants and most of them do us no harm. It is far far better to test the affected relative as there are tens of thousands of possible variants in the BRCA genes and the interpretation is very complex- in someone who doesn’t have breast or ovarian cancer it becomes almost impossible (unless the lab know what variant caused the cancer in an affected relative and are then able to test for that exact variant). Whether in the nhs or private setting, advice would always be that their affected relative be tested. The only time it might be done is if the family history is very suggestive but all affected relatives are deceased, but even then it is heavily caveated.

Just adding that in case anyone reading thinks 23AndMe is a shortcut to reassurance.

@Anothershittydayinparadise it may be that what your clinicians mean is that breast tumour tissue will have hormone receptor testing and particular results can be suggestive of a genetic cause, which may mean genetic testing is carried out on the tissue and then potentially the blood. Age 81 as others have said is not an age suggestive of an underlying cause and in the vast majority of cases wouldn’t meet the threshold for genetic testing. Since they have asked you to find out, you can just ask your mum’s team if there was any suggestion of a genetic cause in your mum’s tumour and explain why you are asking. I suspect they will be able to reassure.

I hope you get your symptoms sorted out and your mum is ok.