Re: BR CA 1 testing
From: jay kulkin (jkulkin@mindspring.com)
Sun Jun 29 10:32:06 1997
Interesting case with a sklight twist- I would like your comments.
43yo Jewish lady (but not Ashkenazie) diagnosed with a Stage I infiltrating
carcinoma of the breast. In less than 2 years both her sister and brother
are diagnosed as well. All are being treated appropriately and doing well.
Lots of kids in all 3 families. How do you feel about screening this family?
Jay
At 07:28 AM 6/29/97 -0500, you wrote:
>On 27 June 1997 Garry Siegel wrote
>
>> Opinions please:
>>
>> 40 YO ashkenazi (Eastern European descent) Jewish woman who had a 11 mm
>> infiltrating ductal breast cancer, node negative, treated with
>> lumpectomy/radiation/prophylactic chemo, who is about 5 years out,
>> meaning the diagnosis was at age 35.
>>
>> Her mother had essentially the same diagnosis in the same breast (left,
>> upper outer) treated the same way at age 55 or so, and is without
>> disease, as is her daughter.
>>
>> Her maternal aunt recently (age 52) had an early lesion, same breast,
>> etc., and had lump/radiation but no chemo.
>>
>> I think that Breast Cancer genetic testing is warranted for the patient,
>> and if positive, I would test the other two. My rationale is if she is
>> positive, that she should consider prophylactic oophorectomy.
>> Furthermore, the aunt has a 28 year old daughter with no disease. There
>> are no other adult females, but the patient has a 10 year old daughter.
>>
>> I have recommended testing through a nearby university center (Emory U);
>> it will cost her about 1300 to 2000 dollars.
>>
>> What do ya'll think?
>
>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
>
--
Jay M. Kulkin, MD, MBA, FACOG
Medical Resource Group
1117 Perimeter Center West
Suite 510 East
Atlanta, Georgia
Phone:770-392-3475
e-mail: medresourcegroup@mindspring.com
