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Re: BR CA 1 testingFrom: Jose C. Ferreira (zec@inx.net)Sun Jun 29 07:28:28 1997
On 27 June 1997 Garry Siegel wrote
> Opinions please: With this family, even without any tests, one should follow ALL their still healthy members (specially females) as high risk for developping breast and maybe ovarian cancer. Being Askhenazi jews, there are 3 most frequent mutations (2 in BRCA1 and 1 in BRCA2). This doesn't happen with the non-jewish population, in which there are no most frequent mutations. The price you refered maybe apply to the screening of the all gene for all the mutations already described or other tests that screen for the presence of mutations. But in this family one could start by the three most frequent mutations in jewish population and think in further tests only if those are negative. The cost of the three most frequent mutations test is, I'm sure, much less than that. The advantage of doing this test is: First verify if, in this family, the cancer is related with mutations in BRCA1 or 2 genes; if yes, doing the test to the healthy ones will be of interest for the ones that will test negative, because in those it will not be necessary to do all the measures already preconized for follow-up of people at risk. If one tests positive, there is no guarantee that those measures will be 100% efficace to prevent death from the disease (breast and ovarian cancer). If the test of the three mutations is negative in the affected members, then you can't rule out other inherited mutations in those or other genes (even if the scanning of the all genes is negative, it can be a inherited condition related with other gene not yet identified). In that case you have to follow all the unaffected patients as high risk. I agree that there will be insurance problems for the ones that will test positive, but I don't know if, belonging to a family like that will not bring insurance problems too (I don't know if insurance companies have access to family history). For those who will test negative they will be free of those insurance problems. In conclusion, the best should be to have the 'three most frequent mutations test' done with a positive result in the affected case and then negative results in the unaffected. Any other result will give troubles. All those facts should be discussed with your patient and the family before going on with any decision. And the test should be done only if the patients want it. Beware of the 10 years old girl. She should give her consent and that may need to wait until she is more able to understand all this issues. There are genetic counseling services that offer cancer genetics counseling. Maybe you should refer your patient to them! There is a page on Internet that can help (I didn't see it, I just read the reference in a genetics book): http:\www.nchgr.nih.gov/dir/Intramural_research/Lab_transfer/Bic/Index.html Hope this will help Jose Ferreira zec@inx.net Ob.-Gyn. Department, Garcia de Orta Hospital, Portugal Temporarily, Genetics Fellow, Montefiore Medical Center (AECOM), New York
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