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在一个基于人群的黑色素瘤病例大样本中黑色素瘤风险的家族聚集性。

Familial aggregation of melanoma risks in a large population-based sample of melanoma cases.

作者信息

Begg Colin B, Hummer Amanda, Mujumdar Urvi, Armstrong Bruce K, Kricker Anne, Marrett Loraine D, Millikan Robert C, Gruber Stephen B, Anton-Culver Hoda, Klotz Judith B, Zanetti Roberto, Gallagher Richard P, Dwyer Terence, Rebbeck Timothy R, Berwick Marrianne

机构信息

Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.

出版信息

Cancer Causes Control. 2004 Nov;15(9):957-65. doi: 10.1007/s10522-004-2474-2.

Abstract

OBJECTIVE

Melanoma has been shown in numerous studies to be associated with sun exposure, and with host phenotypic factors of genetic origin. In this study we use information from a large series of incident cases of melanoma from an international population-based study to examine the patterns of incidence of melanoma in the first-degree relatives of these cases.

METHODS

A total of 2508 incident cases of melanoma provided information on basic demographic data and pigmentary characteristics, in addition to detailed information on family history of melanoma. These data were used to examine the incidence rates ratios of melanoma in the relatives of cases in relation to population rates, and also with respect to phenotypic characteristics of the probands that have been shown to be associated with melanoma: mole counts, hair color, eye color, and skin sensitivity to the sun.

RESULTS

The incidence rates reflect the underlying patterns of incidence in the source populations, with generally higher rates in the Australian sample, low rates in Italy, and intermediate rates in the USA and Canada. Also, rates are higher in men than in women, except at very young ages. Phenotypic characteristics of the probands were only weakly associated with the observed rates in the relatives although there is a strong inverse association with age at diagnosis. Cumulative risk of melanoma rises to 6.9% (6.1%) at age 80 in male (female) first-degree relatives of cases, and to 10.8% (9.5%) in relatives of cases diagnosed before age 50.

CONCLUSIONS

Relatives of cases diagnosed with melanoma are at considerable lifetime risk of the disease, especially if the case is diagnosed at a young age.

摘要

目的

众多研究表明,黑色素瘤与日晒以及遗传起源的宿主表型因素有关。在本研究中,我们利用一项基于国际人群的研究中大量黑色素瘤新发病例的信息,来检查这些病例一级亲属中黑色素瘤的发病模式。

方法

总共2508例黑色素瘤新发病例提供了基本人口统计学数据和色素沉着特征信息,此外还提供了黑色素瘤家族史的详细信息。这些数据用于检查病例亲属中黑色素瘤的发病率与总体人群发病率的比率,以及与已证明与黑色素瘤相关的先证者表型特征的比率:痣的数量、头发颜色、眼睛颜色和皮肤对阳光的敏感性。

结果

发病率反映了源人群中的潜在发病模式,澳大利亚样本中的发病率通常较高,意大利的发病率较低,美国和加拿大的发病率处于中间水平。此外,除了非常年轻的年龄段,男性的发病率高于女性。先证者的表型特征与亲属中观察到的发病率仅有微弱关联,尽管与诊断年龄呈强烈的负相关。病例的男性(女性)一级亲属在80岁时黑色素瘤的累积风险升至6.9%(6.1%),在50岁之前确诊病例的亲属中升至10.8%(9.5%)。

结论

被诊断患有黑色素瘤的病例的亲属一生中患该病的风险相当高,特别是如果病例在年轻时被诊断出来。

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