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遗传性皮肤恶性黑色素瘤:一个20年的家族病例最新情况

Hereditary cutaneous malignant melanoma: a 20-year family update.

作者信息

Anderson D E, Badzioch M D

机构信息

Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030.

出版信息

Anticancer Res. 1991 Jan-Feb;11(1):433-7.

PMID:2018381
Abstract

A family is reported in which 28 members developed cutaneous melanoma. Segregation of the neoplasm suggested an autosomal dominant mode of inheritance but with a sex difference in penetrance and disease expression. Men developed the neoplasm less frequently and at a slightly later age than women and fathers were unaffected carriers more frequently than mothers. Children of affected or carrier fathers developed the disease less frequently than children of affected or carrier mothers. The highest frequency of melanoma occurred in daughters of affected or carrier mothers. Further study of the genetic basis for the development of melanoma is warranted.

摘要

据报道,有一个家族中有28名成员患皮肤黑色素瘤。该肿瘤的遗传分离表明其遗传方式为常染色体显性遗传,但在外显率和疾病表现上存在性别差异。男性患该肿瘤的频率低于女性,发病年龄也稍晚,而且父亲作为未受影响的携带者比母亲更常见。受影响或携带致病基因的父亲的子女患该病的频率低于受影响或携带致病基因的母亲的子女。黑色素瘤发病率最高的是受影响或携带致病基因的母亲的女儿。有必要对黑色素瘤发生的遗传基础进行进一步研究。

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