Dr. Beverly Emanuel's group is trying to examine the mechanism of the t(11;22) translocation to understand how it happens. They especially want to find out whether it can happen in female meiosis as well as in male meiosis. In order to do this, they look at samples from new translocation carriers, which are rare. They need to study individuals who have the balanced translocation, but neither of their parents is a carrier or they can study individuals who have an Emanuel Syndrome affected child and neither of them is a carrier. These are what are called de novo cases. Thus, if there are any de novo carriers willing to participate in research please email me at steph.stpierre@gmail.com.
RESEARCH
Since our group began, we have been very interested in advancing research and awareness on Emanuel Syndrome and the 11;22 translocation.
t(11/22) GENE EXPRESSION STUDY:
Dear study contributors and
other interested parties,
Firstly, I would once again like to thank you all for your
interest and contribution to the
t(11;22) gene expression study. I have been amazed by the
response the study received and
the number of people wishing to be involved and I am extremely
grateful to everybody.
I have now moved jobs and am based back in the UK. Whilst I am
continuing to work
with the t(11;22) and Emanuel syndrome samples I received, I can
no longer accept any
new ones as I do not have ethical approval for this in my new
position. Whilst I cannot
accept new samples, I am of course still happy to be contacted
by anyone with questions
or enquiries, whether previously involved in the study or not. I
have no problems with
sharing results with those not involved in the study (obviously,
there will be no personal
information provided in these results).
My new contact details are:
Louise Harewood, Babraham Institute, Babraham Research Campus,
Cambridge, CB22
3AT, UK. Email: louise.harewood@babraham.ac.uk.
Thank you again and best wishes,
Louise.
Regarding 11/22 and Breast Cancer
Those of
you who have been a part of our group for a period of time will
be aware of past articles which have suggested a link between
breast cancer and being a carrier of the 11/22 translocation.
Here are references regarding this.
1.
Wieland I, Muschke P, Volleth M, Ropke A, Pelz AF, Stumm M,
Wieacker P. High
incidence of familial breast cancer segregates with
constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer. 2006
Oct;45(10):945-9.
2.
Jobanputra V, Chung WK, Hacker AM, Emanuel BS, Warburton D. A
unique case of der(11)t(11;22),-22 arising from 3:1 segregation
of a maternal t(11;22) in a family with co-segregation of the
translocation and breast cancer. Prenat Diagn. 2005
Aug;25(8):683-6.
3.
Lindblom A, Sandelin K, Iselius L, Dumanski J, White I,
Nordenskjold M, Predisposition
for breast cancer in carriers of constitutional translocation
11q;22q. Am J Hum Genet. 1994 May;54(5):871-6.