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báo cáo khoa học: " Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies | Genome Medicine Minireview Moderate- to low-risk variant alleles of cutaneous malignancies and nevi lessons from genome-wide association studies Durga Udayakumar t and Hensin Tsao ti Addresses Department of Dermatology Wellman Center for Photomedicine 48 Blossom Street Massachusetts General Hospital Boston MA 02114 USA. Harvard Medical School 25 Shattuck Street Boston MA 02115 USA. ÍMGH Melanoma and Pigmented Lesion Center MGH Cancer Center 50 Staniford Street Suite 200 Boston MA 02114 USA. Correspondence Hensin Tsao. Email htsao@partners.org Abstract Cutaneous malignancies especially malignant melanoma exhibit great genetic heterogeneity. As a result some individuals and families have particularly increased risk due to genetic predisposition to the disease. The susceptibility alleles range from rarely occurring heritable high-risk variants to ubiquitously occurring low-risk variants. Although until now the focus has been mostly towards the familial high-risk genes the development of genome-wide association studies has uncovered a number of moderate- to low-risk predisposition alleles. The ability to specifically identify genetic variation associated with visible pigmentation traits and disease risk has provided a much richer view of the genetics of cutaneous malignancies. In this review we provide an update on the recently identified risk loci. Existing clinical data combined with vast genome information will provide a better understanding of the biology of disease and increased accuracy in risk prediction. Introduction Cutaneous malignancies such as highly invasive melanoma and the keratinocyte carcinomas such as basal cell carcinoma BCC and squamous cell carcinoma SCC have become increasingly common in recent decades. According to the Surveillance Epidemiology and End Results SEER program it is estimated that 74 610 men and women will be diagnosed with skin cancer in 2009 in the United States and mortality is estimated to be 11 590 excluding BCC and SCC 1 . For