基底细胞癌（BCC）是欧洲裔种群中最常见的癌症，尽管不像其他皮肤癌那样致命，但却能毁容。研究人员在日前在线出版的《自然—遗传学》期刊上报告，他们鉴别出两种与基底细胞癌相关的新变异。
以携带和不携带基底细胞癌的冰岛人群为对象，Unnur Thorsteinsdottir、Kari Stefansson和同事实施了一组泛基因组相关性研究，之后，又对额外受影响的冰岛人和东欧人进行了重复研究。染色体1号倾向于出现基底细胞癌，在这个染色体的不同区域，他们鉴别出两种与基底细胞癌相关的变异。以前鉴别出的基底细胞癌相关性风险因子与皮肤的光洁和美好有关，但1号染色体上的这种变异与此不相关。研究人员由此推测，这两种变异应该是通过一种截然不同的通道增加了这种癌症的风险。
考虑到所有这些遗传风险因子均是最近发现的，论文作者指出，与携带这两种正常基因的人群相比，携带这两种变异基因的人群患这种癌症的风险要高出12倍。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature Genetics，40, 1313 - 1318，Unnur Thorsteinsdottir，Kari Stefansson
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
Simon N Stacey1, Daniel F Gudbjartsson1, Patrick Sulem1, Jon T Bergthorsson1, Rajiv Kumar2, Gudmar Thorleifsson1, Asgeir Sigurdsson1, Margret Jakobsdottir1, Bardur Sigurgeirsson3, Kristrun R Benediktsdottir3, Kristin Thorisdottir3, Rafn Ragnarsson3, Dominique Scherer2, Peter Rudnai4, Eugene Gurzau5, Kvetoslava Koppova6, Veronica H?iom7, Rafael Botella-Estrada8, Virtudes Soriano9, Pablo Juberías10, Matilde Grasa10, Francisco J Carapeto10, Pilar Tabuenca11, Yolanda Gilaberte12, Julius Gudmundsson1, Steinunn Thorlacius1, Agnar Helgason1, Theodora Thorlacius1, Aslaug Jonasdottir1, Thorarinn Blondal1, Sigurjon A Gudjonsson1, Gudbj?rn F Jonsson1, Jona Saemundsdottir1, Kristleifur Kristjansson1, Gyda Bjornsdottir1, Steinunn G Sveinsdottir13, Magali Mouy1, Frank Geller1, Eduardo Nagore8, José I Mayordomo14, Johan Hansson7, Thorunn Rafnar1, Augustine Kong1, Jon H Olafsson3, Unnur Thorsteinsdottir1 & Kari Stefansson1
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 10-12) and rs801114 on 1q42 (OR = 1.28, P = 5.9 10-12). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.
1 deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
2 Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg, D-69120, Germany.
3 Departments of Dermatology, Pathology and Plastic Surgery, Landspitali-University Hospital, 101 Reykjavik, Iceland.
4 National Institute of Environmental Health, Budapest, H-1450, Hungary.
5 Environmental Health Centre, Cluj, RO-Cluj-Napoca, Romania.
6 State Health Institute, Banska Bystrica, SK-975 56, Slovakia.
7 Department of Oncology Pathology, Cancer Centre Karolinska, Karolinska Institutet, Karolinska University Hospital Solna Stockholm, S-171 76, Sweden.
8 Department of Dermatology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
9 Department of Oncology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
10 Division of Dermatology, University Hospital, 50009, Zaragoza, Spain.
11 Health Science Institute, 50009, Zaragoza, Spain.
12 Division of Dermatology. San Jorge General Hospital, 22004, Huesca, Spain.
13 Clinical Research Centre, 110 Reykjavik, Iceland.
14 Division of Medical Oncology, University Hospital, 50009, Zaragoza, Spain.
