Navigation Links
Genetic mutations warn of skin cancer risk
Date:3/30/2014

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.

Every year in the UK, almost 12,000 people are diagnosed with melanoma, a form of skin cancer. About 1 in 20 people with melanoma have a strong family history of the disease. In these patients, pinpointing the genetic mutations that drive disease development allows dermatologists to identify people who should be part of melanoma surveillance programmes.

The team found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma. These mutations deactivate the POT1 gene that protects the ends of our chromosomes from damage.

"Genomics is on the verge of transforming the healthcare system this study highlights the potential clinical benefits that can be gained through genomic studies and offers potential strategies to improve patient care and disease management," says Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute. "With this discovery we should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection."

Known genetic mutations account for approximately 40 per cent of all occurrences of inherited forms of melanoma. The team set out to identify the hereditary mutations that account for the other ~60 per cent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.

They found that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres, regions at the end of our chromosomes that protect chromosomes from damage.

"This finding significantly increases our understanding of why some families have a high incidence of melanoma," says Professor Tim Bishop, Director of the Leeds Institute of Cancer and Pathology. "Since this gene has previously been identified as a target for the development of new drugs, in the future, it may be possible that early detection will facilitate better management of this disease."

The team also found that there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours. It seems that mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.

"Our research is making a real difference to understanding what causes melanoma and ultimately therefore how to prevent and treat melanoma and is a prime example of how genomics can transform public health," says Professor Julia Newton Bishop, co-senior author from the University of Leeds. "This study would not have been possible without the help and patience from the families that suffer from these devastating, inherited forms of melanoma."

The team are currently working on developing cells and mice with an inactive POT1 gene. These will be used to test potential drug therapies that alter telomere metabolism.

Dr Safia Danovi, Cancer Research UK's senior science communications officer, said: "This is a step forward for people with a strong family history of melanoma, the most dangerous form of skin cancer. But it's important to remember that, for most of us, avoiding sunburn and sunbeds is the best way to reduce the risk of this disease."


'/>"/>
Contact: Aileen Sheehy
press.office@sanger.ac.uk
44-012-234-92368
Wellcome Trust Sanger Institute
Source:Eurekalert

Related biology news :

1. Drilling into the trends in genetics and epigenetics of aging and longevity
2. Faster genetic testing method will likely transform care for patients with breast cancer
3. Genetics can explain why infections can trigger rheumatoid arthritis
4. Certain genetic variants may put bladder cancer patients at increased risk of recurrence
5. MRI reveals genetic activity
6. UT Southwestern ob/gyn researchers studying genetic factors in premature births
7. Researchers issue state-of-the-state on genetic-based testing & treatment for breast cancer
8. TGen-led study discovers genetic cause of rare type of ovarian cancer
9. Genetic testing may help select women with ER+ breast cancer for extended hormone therapy
10. Genetic test could improve colon cancer screening
11. Sea anemone is genetically half animal, half plant
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2017)... N.Y. , June 23, 2017  IBM (NYSE: ... dairy research, today announced a new collaboration using next-generation ... chances that the global milk supply is impacted by ... Cornell University has become the newest academic institution to ... a food safety initiative that includes IBM Research, Mars, ...
(Date:5/16/2017)... TEANECK, N.J. , May 16, 2017  Veratad ... leading provider of online age and identity verification solutions, ... the K(NO)W Identity Conference 2017, May 15 thru May ... Ronald Regan Building and International Trade Center. ... across the globe and in today,s quickly evolving digital ...
(Date:4/24/2017)... , April 24, 2017 ... and partner with  Identity Strategy Partners, LLP (IdSP) ... "With or without President Trump,s March 6, 2017 ... Terrorist Entry , refugee vetting can be instilled with ... resettlement. (Right now, all refugee applications are suspended ...
Breaking Biology News(10 mins):
(Date:8/23/2017)... ... August 23, 2017 , ... ... ability to manipulate 3D models of pediatric patients’ neuroanatomy and accurately tailor radiation ... of the Journal of Medical Imaging. The advance is reported in an article ...
(Date:8/23/2017)... ... 22, 2017 , ... Patients suffering from gum disease and failing implants now ... Malik. Dr. Malik, of Broward Center for Laser Periodontics and Implants , ... future of dentistry with regenerative periodontal procedures. , "I initially became ...
(Date:8/23/2017)... Virginia (PRWEB) , ... August 23, 2017 , ... NDA ... PhD, former Director of the Office of Device Evaluation at the FDA’s Center for ... industries, has joined the firm as an Expert Consultant. , Prior to his FDA ...
(Date:8/22/2017)... ... August 22, 2017 , ... One ... is the practice of opioid-dose sparing. Opioid-dose sparing refers to the reduction of ... including with non-steroidal anti-inflammatory drugs (NSAIDs). , The potential for new therapies to ...
Breaking Biology Technology: