Is this a concern?

Gene: BRCA1
Variant: c.2647_2648insGGCA
(p.Ala883Glyfs)
rsID: rs1555589236
Ref Allele: I
Alt Allele: D

Hetero

DI

ClinVar Submissions (1)

Breast-ovarian cancer, familial 1, Autosomal dominant 

 

I dont know whether this is something I should be concerned about?

  • Hello there

    I'm afraid as nurses we cannot interpret test results and suggest you need to speak to your own doctor or with the person who arranged these tests to find out more.

    You haven't given us much information about your situation so I can only assume you have been tested for genetic mutations, this may be because you have cancer yourself or because several family member/s have had cancer and an inherited gene fault has been found in a close relative. 


    Cancer is caused by build up of changes in our genes and/or the way our genes behave. Changes occur because of mistakes or faults which in most cases of cancer have developed over someone's lifetime and are not inherited. Faulty cancer genes can be passed from one generation to the next, but they are uncommon.

    Genetic testing in the NHS is only usually offered to people with a strong family history, as this predicts who is most likely to have inherited a cancer gene fault.

    We have a section about inherited cancer genes and increased cancer risk here you may find helpful to read.

    Anyone undergoing genetic testing is usually well supported by the genetics team who can explain any findings and how this may affect the individual. 

    If a gene fault such as a BRCA1 mutation is found this usually means that this person is at increased risk of developing breast and ovarian cancer. Because of this individuals depending on their circumstances with have the options of treatments and/or regular screening tests given to them to try and minimise these risks.

    Do talk to your doctor when you are able to so you can get a better understanding of what these tests may mean for you.

    Best wishes

    Naomi