Genetic testing & family history

I had BRCA1/2 testing in 2015 following my diagnosis. My maternal Grandmother was diagnosed at 45, as was I. My mother was diagnosed with ovarian cancer at 65. I tested negative for BRCA1/2. Yesterday, my sister received her breast cancer diagnosis. The nurse specialist seemed surprised that neither of my 2 sisters had been  tested - in fact, they were told at the time they would definitely not be eligible. 

Has testing moved on since 2015? Are there other tests available now and to relatives? As you might imagine, our family is feeling deep concerned.

Hi, sorry to hear of your family history.

I had genetic testing earlier this year as have had Breast Cancer in both breasts, and history of prostrate cancer in male relatives. I too was negative for BRCA1/2 and PALB2. The testing has since been expanded and covers more mutations I think. 

I think as you tested negative your sisters wouldn’t have been referred automatically for testing. I assume your Mum and Grandmother weren’t tested? 

Maybe speak to your GP and try and get a new referral? 

I hope you get some answers. Best wishes, Karen 

Hello coffeetogo

Thank you for posting your question.

It sounds like a difficult time for your family with your sister being diagnosed with breast cancer. It is understandable that you have questions about your family history.

Your sister can talk to her breast care nurse or treatment team and they will be able to advise if she is eligible for genetic testing based on her cancer diagnosis and the family history. The genetic specialist would then be able to advise if other family members would need assessment. Alternatively, as karenNF suggests contacting the GP, as any person who is worried about their breast cancer risk can talk to their GP to discuss if referral to a family history clinic would be recommended for them.

Genetic testing has progressed since 2015 with new altered genes, such as PALB2, being added to the testing panel.

We offer a range of free support services that your sister may be interested in. For more details about all of these services, please see the information on the link, or call our free Helpline

You or your sister can call our Helpline if you would like to talk this through or have any further questions. Your call will be confidential, and the number is free from UK landlines and all mobile networks. The number is 0808 800 6000, (Relay UK -prefix 18001).

If you would like a nurse to call you do complete this form . Ticking the box agreeing to a call back.

Our opening hours are Monday to Friday 9am - 4pm and 9am -1pm on Saturday. Out of hours you can leave a message and we will call you back when we next open.

Best wishes

Cassie

Breast Care Nurse

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