Cannon-Albright L A, Meyer L J, Goldgar D E, Lewis C M, McWhorter W P, Jost M, Harrison D, Anderson D E, Zone J J, Skolnick M H
Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City 84132.
Cancer Res. 1994 Dec 1;54(23):6041-4.
A susceptibility locus for familial melanoma has been localized to the short arm of chromosome 9. Penetrance of melanoma was estimated by calculating the Kaplan-Meier function and fitting a log normal hazard function in 124 gene carriers in three 9p-linked kindreds. The penetrance of the gene for melanoma was estimated to be 53% by age 80. Additionally, nevus counts, skin type, and sun exposure histories were gathered for 119 individuals in two kindreds. Gene carriers were found to have higher nevus counts and nevus densities than non-gene carriers. Among gene carriers, individuals with melanoma were found to have more sun exposure within each skin type than gene carriers without melanoma. These analyses suggest that the 9p melanoma susceptibility is related to total number of nevi and that it interacts with other genetic and environmental factors to produce melanoma.
家族性黑色素瘤的一个易感基因座已定位到9号染色体短臂。通过计算卡普兰-迈耶函数并对三个与9p连锁的家族中的124名基因携带者拟合对数正态风险函数，估计黑色素瘤的外显率。到80岁时，黑色素瘤基因的外显率估计为53%。此外，还收集了两个家族中119人的痣计数、皮肤类型和日晒史。发现基因携带者的痣计数和痣密度高于非基因携带者。在基因携带者中，发现患有黑色素瘤的个体在每种皮肤类型中的日晒量都比未患黑色素瘤的基因携带者多。这些分析表明，9p黑色素瘤易感性与痣的总数有关，并且它与其他遗传和环境因素相互作用以产生黑色素瘤。
