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荷兰家族性非典型多发性痣-黑色素瘤(FAMMM)综合征的遗传学研究:我们取得了哪些进展?

Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come?

作者信息

Gruis N A, Van der Velden P A, Bergman W, Frants R R

机构信息

MGC-Department of Human Genetics, Leiden University Medical Center, The Netherlands.

出版信息

Bull Cancer. 1998 Jul;85(7):627-30.

PMID:9752270
Abstract

By the genetic localization of the first melanoma susceptibility gene on chromosome 1p we thought that the puzzle on familial melanoma families would soon be solved. Now, almost fifteen years later we have learned that inherited melanoma is not a simple genetic disorder and that multiple genes, modifying genes and environmental factors might be involved. This paper outlines the current understanding of the genetics of melanoma and the relationship to atypical nevi based on more than ten years of genetic analysis in the Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families.

摘要

通过将首个黑色素瘤易感基因定位于1号染色体上,我们曾认为家族性黑色素瘤家族之谜很快就能解开。如今,近十五年过去了,我们了解到遗传性黑色素瘤并非简单的遗传疾病,可能涉及多个基因、修饰基因和环境因素。本文基于对荷兰家族性非典型多发性痣-黑色素瘤(FAMMM)综合征家族十余年的基因分析,概述了目前对黑色素瘤遗传学及其与非典型痣关系的理解。

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