Research press release


Nature Communications

Cancer: Mutations in 'red hair gene' associated with increased skin cancer mutations



今回、David Adamsたちは、Rバリアントを持つ患者とRバリアントを持たない患者のコホートから採取した黒色腫検体における変異の数を調べた。Adamsたちは、既に公表されている2つのデータセット(黒色腫検体数がそれぞれ273と132で、それぞれの検体に由来するDNA塩基配列情報が含まれている)を解析した。その結果分かったのは、1コピーか2コピーのRバリアントを持つ者がRバリアントを持たない者より黒色腫検体のDNAにおける変異が多かったことだ。また、1コピー以上のRバリアントを持つ者の黒色腫検体に含まれる特定の変異(塩基がCからTに変化したもの)を調べたところ、その数がRバリアントを持たない者より42%多いことが判明した。


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

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