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:4/26/2016)... 2016 Research and Markets has ... Market 2016-2020"  report to their offering.  , ,     ... The analysts forecast the global multimodal biometrics market ... the period 2016-2020.  Multimodal biometrics is ... as the healthcare, BFSI, transportation, automotive, and government ...
(Date:4/15/2016)... April 15, 2016  A new partnership announced ... accurate underwriting decisions in a fraction of the ... priced and high-value life insurance policies to consumers ... With Force Diagnostics, rapid testing (A1C, Cotinine ... readings (blood pressure, weight, pulse, BMI, and activity ...
(Date:4/14/2016)... Israel , April 14, 2016 ... Authentication and Malware Detection, today announced the appointment of ... assumed the new role. Goldwerger,s leadership appointment ... on the heels of the deployment of its platform ... BioCatch,s behavioral biometric technology, which discerns unique cognitive and ...
Breaking Biology News(10 mins):
(Date:5/20/2016)... ... 20, 2016 , ... The recent recall by Costco and Trader Joes of ... on May 12, 2016(1), demonstrates the need for faster and more cost effective bio-threat ... PathSensors, Inc. , PathSensor’s latest solution uses a biosensor technology called ...
(Date:5/19/2016)... 19, 2016 Regen ... PINK: RGBPP) announced today initiation of a preclinical ... blood based cancer immunotherapeutic product leveraging its NR2F6 ... described a generation of cord blood derived killer ... silencing.  The product in development will be a ...
(Date:5/18/2016)... ... May 18, 2016 , ... STACS DNA Inc., the sample tracking ... and report sexual assault kit processing to help them save time and reduce errors. ... for kits to be processed and victims informed of results. Due to a previous ...
(Date:5/17/2016)... ... 2016 , ... DryLet, LLC, a biotechnology company providing an ... be showcasing ManureMagicâ„¢ at booth V1061 at the World Pork Expo, June 8-10 ... last year and more recently made news as the results were released from ...
Breaking Biology Technology: