家族性乳腺癌的高发病率与染色体组型t(11;22)(q23;q11)相关。

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).

作者信息

Wieland Ilse, Muschke Petra, Volleth Marianne, Röpke Albrecht, Pelz Antje-Friederike, Stumm Markus, Wieacker Peter

机构信息

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

出版信息

Genes Chromosomes Cancer. 2006 Oct;45(10):945-9. doi: 10.1002/gcc.20358.

DOI:10.1002/gcc.20358

PMID:16845657

Abstract

In a family with a high incidence of postmenopausal breast cancer and a case of glioblastoma, the constitutional translocation t(11;22)(q23;q11.2) was shown to segregate with the malignancies. The breakpoints in this family coincided with the common breakpoints in t(11;22) as shown by a translocation-specific PCR assay. Loss of heterozygosity analysis of breast tumor tissue revealed deletion of the normal chromosome 22, but retention of der(22) in the tumor cells, suggesting a predisposing effect of the der(22) for breast and brain tumor development in this family.

摘要

在一个绝经后乳腺癌发病率高且有1例胶质母细胞瘤的家族中，遗传性易位t(11;22)(q23;q11.2)显示与恶性肿瘤共分离。通过易位特异性聚合酶链反应分析表明，该家族中的断点与t(11;22)中的常见断点一致。对乳腺肿瘤组织的杂合性缺失分析显示，正常22号染色体缺失，但肿瘤细胞中保留了der(22)，提示der(22)对该家族中乳腺和脑肿瘤的发生有易患作用。