Can my sister be tested.

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1

Hi

My Mum and her sister both had BC, I was DX in August 08 and had blood taken for genetic testing in September. The results can back yesterday saying there are no BRACA1 or BRACA2 mutations found.

My sister is concerned for herself, we will never know whether Mum had the gene faults, she died 20 years ago.The genetic clinic is saying that they will only test her if my results come back positive,does that sound right?

I don’t know what to say to her to help.

Thanks

Andie

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Hi andie both my sister went to breast clinic they had to do a family history questionare They then had an appointment made for mammogramms they are both under 50 they was ok they have to go every year now and was told just to keep checking there bust im 44

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Hi Andie,

That sounds like the normal response. Mt testing came back with no mutation found and the letter from the genetics service said that they couldn’t offer testing to any relative who hadn’t developed cancer.

However, when I was talking with the genetic counsellor prior to testing she said that any women in the immediate family who were under 50 would be eligible for early screening, regardless of whether or not I went ahead with testing or of the results. This was based on the risk, which remains high regardless of the lack of mutation found. My sister’s GP arranged this for her. Might be worth your sister contacting her GP to discuss this and also to see if she can be referred to a family history clinic who would at least discuss the risk situation with her.

Eliza xx

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Hi Andie
My family have done things in the opposite order to Eliza, but the net result is similar. When I was Dx with BC in July 2010 I immediately suggested to my sister that she should ask for a family risk assessment, since both our grandmothers and our mother have had BC. She requested that through her GP and had the assessment today, which is purely based on past family BC history, no genetic testing. The result was that she has a much higher risk than the general population and will therefore be offered annual screening until she is 50 (she is 42 now) and every 18 months after 50. She was also asked if she would be willing to take part in a genetic research trial and said yes, but that hasn’t happened yet. That will mean our mother plus me providing blood samples for genetic testing.
Sarah x