hiya sharon
not sure why your gene testing is taking so long unless its part of the brca 3 research trial…
the lab analysis should only take around 4 months to do a full gene analysis for brca 1 and 2… or maybe this is just the time scale in scotland.
i know the brca 3 genetics of familial breast cancer research trial can take around 9 to get a result but it isnt so thorough as the lab analysis mine came back negative through the research but positive 3 years later through the labs as i have a missense brca 2 mutations and apparently missense mutations are looked for in the trial.
after getting my initial letter saying i was negative back in 2007 i never for one moment actually thought this one would come back positive i just thought it was more a paper exercise dotting the i’s and crossing the t’s… and was actually pretty shocked when i found out i had a mutation… but over the months have come to terms with it.
i recently had a hysterectomy and ovary removal as the brca 1 and 2 genes also increase the risk of ovarian cancer… just got my path results on friday and there was no evidence of malignancy which is very reassuring as a cousin died from ov ca at 45.
i have seen the plastic surgeon and on the waiting list to have bilateral mx with implant reconstruction and permacol… but im not in any hurray to have the surgery as im still recovering from the TAH and BSO which will take another few months before im fully fit.
i actually work in breast cancer genetic screening as a bcn so my work are being quite supprotive.
one thing to bear in mind with genetic testing is that even in high risk families the majority of people will have an inconclusive result only around 20% of those tested will be found to be gene carriers… this unfortunately doesnt lower your risk or that of your immediate family and they will be entitled to early screening.
if you are found to be a gene carrier then family members will also be offered a predictive gene test for your exact mutation form age 18 if they wish it. this predictive test will either give a positive or negative result.
positive means they do have the same mutation and are high risk and will be offered more intensive screening and prophylactic surgery.
a negative result means they do not carry your gene mutation are not at any increased risk and would have normally screening from age 50 as they have the same risk as the rest of the population.
brca 1 and 2 carriers are offered more intensive screening… annual breast exam from age 25, mammo normally 2 yearly from 35 or 5 years younger than youngest family member diagnosed but not commencing before age 30, then annually from age 40
and in the next few months they are also going to be offered an annual breast MRI scan between the ages of 30 and 50… although the exact details amy vary slightly between health authorities.
the annoying thing is more scans mean more anxiety… especially as mri is more sensitive and picks up abnormalities which dont really exist… i had my first mri in june and required a follow up ultra sound and a few weeks of worry only for nothing sinister to be found on USS or mammo.
sorry for the mammoth essay… hope i havent put you to sleep.
Lxx