New test spares couples with familial cancer the trauma of termination

June 19, 2006

A new way of sparing couples the trauma of having to decide between having a baby with a high risk of developing a form of colorectal cancer later in life, or terminating the pregnancy, will be revealed on 20 June 2006 at the 22nd annual conference of the European Society of Human Reproduction and Embryology in Prague, Czech Republic. Professor Stéphane Viville, director of the biology of reproduction service at Strasbourg University Hospital, Strasbourg, France, will tell the conference that, using his team's new test, it will be possible to offer preimplantation genetic diagnosis (PGD) to almost all cases of familial adenomatous polyposis (FAP), an adult-onset cancer which represents 1% of all cases of colorectal cancer.

PGD was originally proposed for couples at risk of having a child affected by severe genetic disorders such as cystic fibrosis, which manifest themselves at birth or in very early childhood. However, it is now possible to test for some diseases that occur at a later stage in life, such as Huntington's disease and some hereditary cancers. "Because the child will carry only a risk - albeit it a high one - of developing these conditions during adulthood, many parents, as well as clinicians, have doubts about terminating such a pregnancy," Professor Viville says. "In fact some couples would prefer not to have children in these circumstances."

Twelve couples with a risk of passing on FAP to any children were referred to Professor Viville and his team between 2000 and 2005. At first the team worked on tests to detect the most common FAP mutation, but then, by carrying out double and triple diagnostic tests on each cell, were able to detect the many rarer mutations that are involved in familial cases. "Because the pathology is dominant, and only one member of the couple is affected and at risk of transmitting the disease," said Professor Viville, "we only have to look for one mutation at a time.

"But there are a number of these mutations and therefore it is necessary to develop a different test for each if we are to be sure that PGD will be effective. Our test is very robust as well as being technically innovative - for the first time in this disease we have been able to use molecular technology at the single cell level, which allows us to detect mutations that are otherwise very difficult to identify."

The team started eleven IVF cycles, of which nine gave rise to embryo biopsy and eight had an embryo transfer. From these, one boy has been born and two other pregnancies are on-going. Reanalysis of eleven un-transferred embryos confirmed PGD results for FAP mutations.

"We are now able to propose PGD to most couples at risk of transmitting a familial form of FAP to their children", says Professor Viville. "With our experience growing all the time, we hope that we will shortly be able to develop new protocols which will enable us to offer PGD for all mutations involved in FAP, including those which occur for the first time."
-end-


European Society of Human Reproduction and Embryology

Related Colorectal Cancer Articles from Brightsurf:

Colorectal cancer treatment: the winning combinations
Chemotherapy has distressing side effects for patients and increases the risk of developing resistance to the treatment.

A new model to predict survival in colorectal cancer
This signature could be useful in clinical practice, especially for colorectal cancer diagnosis and therapy.

Roadmap to reducing colorectal cancer deaths
The American Gastroenterological Association has outlined a strategy to increase the number of people screened via tests that are more convenient, accurate and less expensive and tailored to people's individual cancer risks.

Study provides new insight on colorectal cancer growth
A new study by researchers at the University of Kentucky identifies a novel function of the enzyme spermine synthase to facilitate colorectal cancer growth.

Researchers ID target for colorectal cancer immunotherapy
Researchers at the Indiana University Melvin and Bren Simon Comprehensive Cancer Center have identified a target for colorectal cancer immunotherapy.

Colorectal cancer partner-in-crime identified
A protein that helps colorectal cancer cells spread to other parts of the body could be an effective treatment target.

Cancer cell reversion may offer a new approach to colorectal cancer treatment
A novel approach to reverse the progression of healthy cells to malignant ones may offer a more effective way to eradicate colorectal cancer cells with far fewer side effects, according to a KAIST research team based in South Korea.

A novel pathway to target colorectal cancer
Survival rates for patients with late-stage colorectal cancer are dismal, and new therapeutic strategies are needed to improve outcomes.

Colorectal cancer rates in Canada
The incidence of colorectal cancer among younger adults increased in recent years in this analysis of data from Canadian national cancer registries that included about 688,000 new colorectal cancers diagnosed over more than 40 years.

Cancer drugs promote stem cell properties of colorectal cancer
Scientists from the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) and the Mannheim University Medical Center have now discovered that a certain group of cancer drugs (MEK Inhibitors) activates the cancer-promoting Wnt signalling pathway in colorectal cancer cells.

Read More: Colorectal Cancer News and Colorectal Cancer Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.