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PALB2 gene

8 REPLIES 8
Member

Re: PALB2 gene

It sounds like he will be seeing one of the genetic councillors who will take his family history, talk though any issues and maybe sign consent forms. They wanted to know that I understood what they were doing and how much information I wanted to receive. You are very much in control and they are very professional. They will then do the blood test. But, you can always ring and check. 

 

Hope this helps.

 

 

Member

Re: PALB2 gene

He has got his blood test appointment on March 26th. Is that appointment just family history and then the blood test? They said it's a 45 Mon appointment. I'm just wondering whether to go with him or whether it would be better to go with him depending on the results to the next appointment?
Sorry for all the questions!
Member

Re: PALB2 gene

that is brilliant that your husband has got himself linked with the Cambridge genetics team, they really are lovely and so helpful. it is just a 2minute blood test but yeah sadly is a while to wait for results. staff are so supportive and knowledgeable about all the different mutations of genes. I hope it goes well for your husband and your family.x
Member

Re: PALB2 gene

Hi, I am being treated at Addenbrooke’s so have been on the breast cancer gene research program that Cambridge Genetics are running with all patients. They picked up that I have an alteration on my chek2 gene which raises my risk of bc from 12% to 22%. The genetic team at Cambridge are excellent and yes it is just a blood test, but the results do take several weeks to come though.

 

They are offering my female relatives an NHS gene test to establish if they too have this gene variation.  

 

Goodluck

 

Member

Re: PALB2 gene

Thank you. That's really helpful and nice to hear a positive outcome. Hubby has been to GP and referred to the Cambridge genetics team. He had a call from them last week and has had his letter through to book his appointment for the test. Am I right in thinking it's just a blood test at the first appointment?
How long after that do you get the results?
Our view is that at least if he knows whether he has the gene or not it gives our children options and the opportunity for screening - better scenario than not knowing.
Member

Re: PALB2 gene

hey, so sorry to hear of the loss and all this information coming to light in this way.
It is worth contacting your local genetics department as my mum was diagnosed with breast cancer via the palb2 gene last year. she got the all clear and discharged from the breast unit on Monday! me and my brothers got tested for the gene and me and my older brother have the gene . I have this week also opted to have a double mastecomy without reconstruction as I don't want to put my son through what I went through with my mum. I'm only 38 but the way I see it is I want to see my son grow up, i don't need boobs but I do need my life. the genetics team are really helpful ( well the one in Cambridge is) . I hope this helps in some way x
Community Champion
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Community Champion

Re: PALB2 gene

Hi - it might be worth asking this question in the Ask The Nurses section of the forum - hopefully they will be able to advise .I will post you a link .Jill.
Member

PALB2 gene

My husbands uncle contacted us a couple of years ago and told us he had breast cancer which runs in the male members of the family. He was treated but sadly the cancer returned and spread this year and he died a few weeks ago.

My husband has had contact with his Aunt and her daughters (his cousins) and have told him she also has breast cancer. Before his death her and her brother were tested and the PALB2 gene identified. One of her daughters has it, the other doesn’t.

My husbands uncle and aunt are two of three siblings, the other being my mother-in-law. She died last year. She had Parkinson’s but declined extremely rapidly over the last year of her life. So much so that doctors caring for her suggested that they felt there could be something else medically going on but didn’t feel it was in her best interests subjecting her to further tests due to her frailty and rapid decline in health. We now wonder whether with such a strong history of breast cancer in her siblings, and having had the PALB2 gene identified whether she also died with breast cancer. Unfortunately as it was an expected hospital death there would have been no post mortem.

When we found out about my husbands uncles cancer we spoke to our GP about genetic testing and he said an uncle isn’t a close enough relative to justify genetic testing and that hubbys risk is low. Now with the further information we have regarding the PALB2 gene, and the fact it has affected Male and female members of his family, would this be enough for hubby to have genetic testing? Would we need to get mother-in-laws medical records to prove that doctors questioned whether she had something else as well as Parkinson’s Disease? We can’t prove she had it but we have strong suspicions. Would the fact that now we know both of her siblings have the gene mean that my husband could go back and ask the GP to be tested for the gene as well?

Any comments or advice would be very much appreciated as we have three children, and a grandchild along with my husband who could be affected.