Navigation Links
Mutations in a gene essential for cell regulation cause kidney cancer in children
Date:8/7/2014

Mutations in a gene that helps regulate when genes are switched on and off in cells have been found to cause rare cases of Wilms tumour, the most common kidney cancer occurring in children.

A study led by scientists at The Institute of Cancer Research, London, identified mutations in the CTR9 gene in six children with Wilms tumour.

Wilms tumour affects around one in 10,000 children and usually develops before the age of five years. Treatment of Wilms tumour is very successful, with 90 per cent of children being cured.

Usually Wilms tumour only affects one child in a family, but very occasionally more than one child in a family develops the cancer. When this happens it indicates that hereditary genetic factors are likely to be involved.

The researchers studied the genes of 35 families with more than one case of Wilms tumour, recruited to the study through a network of collaborators from across the world. In six children, from three different families, they found CTR9 mutations that stopped the gene working properly. No similar mutations were present in 1,000 individuals without Wilms tumour.

The research is published today (Thursday) in the journal Nature Communications and is part of the Factors Associated with Childhood Tumours Study, which is funded by the Wellcome Trust, and aims to identify genetic causes of childhood cancers. The study was also supported by Cancer Research UK.

CTR9 is part of a multi-protein complex, known as PAF1, which regulates when genes are switched on and off. The PAF1 complex has many essential diverse roles in controlling cellular processes and organ development in the embryo. Interestingly, mutations of another gene in the complex, CDC73, have previously been shown to cause cancer, particularly of the parathyroid gland, but also occasionally Wilms tumour.

Study leader Professor Nazneen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, and Head of Cancer Genetics at The Royal Marsden NHS Foundation Trust, said: "This research adds further evidence that malfunctioning of the PAF1 complex can lead to cancer. We hope our findings will stimulate research into why and how this occurs and will lead to improved treatments for cancer.

"Our findings are also of immediate value to affected families, who now have an explanation for why their children got cancer. Moreover, we can now do a simple blood test to see which children in the family are at risk of cancer and may benefit from cancer screening, and which have not inherited the mutation and so are not at increased risk of cancer."

Dr Michael Dunn, Head of Genetics and Molecular Science at the Wellcome Trust, said: "This is an excellent example of the power of genetics to discover new disease pathways. In the future similar research on these genes and others will open up important areas of research and ultimately lead to better screening and treatments for patients."


'/>"/>
Contact: Henry French
henry.french@icr.ac.uk
020-715-35380
Institute of Cancer Research
Source:Eurekalert

Related biology news :

1. Tumor suppressor mutations alone dont explain deadly cancer
2. Forced mutations doom HIV
3. Mutations from Venus, mutations from Mars
4. No extra mutations in modified stem cells, study finds
5. Severe scoliosis linked to rare mutations
6. Virus-fighting genes linked to mutations in cancer
7. Key genetic mutations could be new hope for adrenocortical tumor patients
8. Genetic mutations warn of skin cancer risk
9. Study pinpoints protective mutations for type 2 diabetes
10. New method developed for ranking disease-causal mutations within whole genome sequences
11. New hope: Researchers discover genetic mutations that cause rare and deadly lung disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/18/2017)... 2017  Socionext Inc., a global expert in SoC-based imaging and ... the M820, which features the company,s hybrid codec technology. A demonstration ... Probe, Inc., will be showcased during the upcoming Medtec Japan at ... the Las Vegas Convention Center April 24-27. ... Click here for an ...
(Date:4/13/2017)... April 13, 2017 UBM,s Advanced Design and ... will feature emerging and evolving technology through its 3D ... will run alongside the expo portion of the event ... and demonstrations focused on trending topics within 3D printing ... and manufacturing event will take place June 13-15, 2017 at ...
(Date:4/11/2017)... 11, 2017 Crossmatch®, a globally-recognized leader ... today announced that it has been awarded a ... Activity (IARPA) to develop next-generation Presentation Attack Detection ... "Innovation has been a driving force within Crossmatch ... allow us to innovate and develop new technologies ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... BioMedGPS announces expanded coverage of ... newest module, US Hemostats & Sealants. , SmartTRAK’s US Market for Hemostats and ... synthetic sealants and biologic sealants used in surgical applications. BioMedGPS estimates the market ...
(Date:10/11/2017)... Wayne. NJ (PRWEB) , ... October 11, 2017 , ... Personal eye wash is a ... rinse one eye at a time. So which eye do you rinse first if a ... you have Plum Duo Eye Wash with its unique dual eye piece. , ...
(Date:10/11/2017)... ... ... Disappearing forests and increased emissions are the main causes of the evolving air ... living in larger cities are affected by air pollution related diseases. , That is ... globally - decided to take action. , “I knew I had to take action ...
(Date:10/10/2017)... Philadelphia, PA (PRWEB) , ... October 10, 2017 ... ... University City Science Center’s FirstHand program has won a US2020 STEM Mentoring Award. ... accept the award for Excellence in Volunteer Experience from US2020. , US2020’s mission ...
Breaking Biology Technology: