Red hair gene variation drives up skin cancer mutations

July 12, 2016, Wellcome Trust Sanger Institute
Melanoma in skin biopsy with H&E stain — this case may represent superficial spreading melanoma. Credit: Wikipedia/CC BY-SA 3.0

For the first time, researchers at the Wellcome Trust Sanger Institute and University of Leeds have proved that gene variants associated with red hair, pale skin and freckles are linked to a higher number of genetic mutations in skin cancers. The burden of mutations associated with these variants is comparable to an extra 21 years of sun exposure in people without this variant.

The research, published today in Nature Communications, showed that even a single copy of a -associated MC1R gene variant increased the number of mutations in melanoma ; the most serious form of skin cancer. Many non-red haired people carry these common variants and the study shows that everyone needs to be careful about sun exposure.

Red-headed people make up between one and two percent of the world's population but about 6 per cent of the UK population. They have two copies of a variant of the MC1R gene which affects the type of melanin pigment they produce, leading to red hair, freckles, pale skin and a strong tendency to burn in the sun.

Dr David Adams, joint lead researcher at the Wellcome Trust Sanger Institute, said: "It has been known for a while that a person with red hair has an increased likelihood of developing skin cancer, but this is the first time that the gene has been proven to be associated with skin cancers with more mutations.

"Unexpectedly, we also showed that people with only a single copy of the gene variant still have a much higher number of tumour mutations than the rest of the population. This is one of the first examples of a common genetic profile having a large impact on a cancer genome and could help better identify people at higher risk of developing skin cancer."

The researchers analysed publically available data-sets of tumour DNA sequences collected from more than 400 people. They found an average of 42 per cent more sun-associated mutations in tumours from people carrying the .

Professor Tim Bishop, joint lead author and Director of the Leeds Institute of Cancer and Pathology at the University of Leeds, said: "This is the first study to look at how the inherited MC1R gene affects the number of in skin cancers and has significant implications for understanding how skin cancers form. It has only been possible due to the large-scale data available. The tumours were sequenced in the USA, from patients all over the world and the data was made freely accessible to all researchers. This study illustrates how important international collaboration and free public access to data-sets is to research."

Exposure to ultraviolet light from either sunlight or sunbeds causes damage to DNA and it has been thought that the type of skin pigment associated with red-heads could allow more UV to reach the DNA. While this may be one mechanism of damage, the study also revealed that the MC1R gene variation not only increased the number of spontaneous mutations caused by ultraviolet light, but also raised the level of other in the tumours. This suggests that biological processes exist in cancer development in people with MC1R variation that are not solely related to ultraviolet light.

Dr Julie Sharp, head of health and patient information at Cancer Research UK, said: "This important research explains why red-haired people have to be so careful about covering up in strong sun. It also underlines that it isn't just with red hair who need to protect themselves from too much sun. People who tend to burn rather than tan, or who have fair skin, hair or eyes, or who have freckles or moles are also at higher risk.

"For all of us the best way to protect when the sun is strong is to spend time in the shade between 11am and 3pm, and to cover up with a t-shirt, hat and sunglasses. And sunscreen helps protect the parts you can't cover; use one with at least SPF15 and 4 or more stars, put on plenty and reapply regularly."

Explore further: How old do you look? Study finds an answer in our genes

More information: Carla D. Robles-Espinoza, Nicola D. Roberts, Shuyang Chen et al. (2016) Germline MC1R status influences somatic mutation burden in melanoma. Nature Communications, DOI: 10.1038/NCOMMS12064

Related Stories

How old do you look? Study finds an answer in our genes

April 28, 2016
Researchers reporting in the Cell Press journal Current Biology on April 28 have found a gene that helps explain why some people appear more youthful than others.

New study helps scientists understand melanoma development

July 15, 2014
(Medical Xpress)—A new study by University of Kentucky researchers shows how a genetic defect in a specific hormonal pathway may make people more susceptible to developing melanoma, the deadliest type of skin cancer.

Study helps explain increased melanoma risk in individuals with red hair

August 22, 2013
A person's skin pigment, which determines hair color and skin tone, is influenced by the melanocortin-1 (MC1R) gene receptor. For the population's one to two percent of redheads, a mutation in MC1R accounts for their red ...

Blue-eyed people may face higher melanoma risk

November 19, 2014
(HealthDay)—New research suggests that genes tied to blue eyes and red hair could put people at higher risk for moles or freckling in childhood, which are often precursors to the deadly skin cancer melanoma later in life.

Using healthy skin to identify cancer's origins

May 21, 2015
Normal skin contains an unexpectedly high number of cancer-associated mutations, according to a study published in Science. The findings illuminate the first steps cells take towards becoming a cancer and demonstrate the ...

Evolutionary medicine of skin cancer risk among Europeans

September 17, 2013
The proclivity of Spaniards to bask in regions like the Costa del Sol while their northern European counterparts must stay under cover to protect their paler skin or risk skin cancer is due in large part to the pigment producing ...

Recommended for you

Looking at the urine and blood may be best in diagnosing myeloma

July 13, 2018
When it comes to diagnosing a condition in which the plasma cells that normally make antibodies to protect us instead become cancerous, it may be better to look at the urine as well as the serum of our blood for answers, ...

Massive genome havoc in breast cancer is revealed

July 12, 2018
In cancer cells, genetic errors wreak havoc. Misspelled genes, as well as structural variations—larger-scale rearrangements of DNA that can encompass large chunks of chromosomes—disturb carefully balanced mechanisms that ...

Study shows biomarker panel boosts lung cancer risk assessment for smokers

July 12, 2018
A four-protein biomarker blood test improves lung cancer risk assessment over existing guidelines that rely solely upon smoking history, capturing risk for people who have ever smoked, not only for heavy smokers, an international ...

Discovering the mechanisms that underlie prostate cancer

July 12, 2018
New research has uncovered insights into the mechanisms that underlie prostate cancer, providing potential targets for new cancer therapies.

New method reveals how well cancer drugs hit their targets

July 12, 2018
Scientists have developed a technique that allows them to measure how well cancer drugs reach their targets inside the body. It shows individual cancer cells in a tumour in real time, revealing which cells interact with the ...

Engineered cancer cells can fight primary and metastatic cancer

July 11, 2018
What if cancer cells could be re-engineered to turn against their own kind? A new study led by researchers at Brigham and Women's Hospital leverages the power of gene editing to take a critical step toward using cancer cells ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.