Cancer: Mutations in 'red hair gene' associated with increased skin cancer mutations
Nature Communications
2016년7월13일
Patients suffering from a type of skin cancer known as melanoma who also carry genetic variants in the gene MC1R - associated with red hair and freckles - have 42% more mutations in their cancers compared to individuals without these variations, reports a study published in Nature Communications this week. These findings have implications for understanding individuals’ risk of developing melanoma.
The protein MC1R, or the melanocortin 1 receptor, is involved in skin pigmentation. It is well known that some individuals carry genetic variants of MC1R: two copies of these so-called ‘R variants’ are associated with red hair, while people with one copy of an R variant do not generally have red hair but show altered responses to UV, or sun exposure, compared to people with no R variants. MC1R variants are also known to be associated with an increased risk of developing melanoma.
David Adams and colleagues investigated how many mutations were present in melanoma samples taken from cohorts of patients with and without R variants. They analysed two previously published datasets composed of 273 and 132 melanoma samples each, including sequenced DNA information from the samples. They found that individuals with one or two R variants displayed an increase in the number of mutations in the DNA of their melanoma samples compared to those with no R variants. When they examined only one specific type of mutation (involving a base change from C to T) in the melanomas of patients with one or more R variants, they found an increase of 42% in the number of these mutations in the melanoma samples of these patients.
In addition, the authors found that another factor associated with an increase in the number of mutations was age: each year of age was associated with a 1.7% increase in the number of mutations in the melanoma samples.
doi: 10.1038/ncomms12064
리서치 하이라이트
-
7월1일
Criminology: Predicting police enforcement bias in major US citiesNature Human Behaviour
-
7월1일
Space health: The path of most resistance could help limit bone loss during spaceflightScientific Reports
-
6월30일
Microbiology: Transmission of gastrointestinal viruses in salivaNature
-
6월29일
COVID-19: Assessing instances of long COVID in UK health dataNature Communications
-
6월24일
Sport science: New wearable sensor to measure neck strain may detect potential concussionScientific Reports
-
6월23일
Scientific community: Women credited less than men in scientific paper authorshipNature