日本散发性乳腺癌中BRCA1区域的低频杂合性缺失

Low Frequency Loss of Heterozygosity in the BRCA1 Region in Japanese Sporadic Breast Cancer.

作者信息

Yamashita T, Iwase H, Yamashita i, Iwata H, Ito K, Toyama T, Hara Y, Kobayashi S

机构信息

Second Department of Surgery, Nagoya City University Medical School, 1 Kawasumi, Mizuho-ku, Nagoya 467, Japan.

出版信息

Breast Cancer. 1996 Dec 20;3(3):167-172. doi: 10.1007/BF02966980.

DOI:10.1007/BF02966980

PMID:11091753

Abstract

To investigate the possible involvement of the BRCA1 gene in Japanese sporadic breast cancer we have analyzed loss of heterozygosity (LOH) at the BRCA1 region (17q12-q22) in 101 sporadic breast cancers using 5 microsatellite markers, such as D17S250, D17S846, D17S855, D17S579, and NME1. The frequency of LOH in each markers was 14.9%(11/74), 11.9 %(8/67),14.3%(12/84),5.3%(4/75), and13.3%(9/68),respectively. The incidence of LOH in at least one of 5 markers was 23.8%(24/101). The LOH at the BRCA1 region did not significantly correlate with clinicopathologic factors. Despite using a microdissection method, the LOH frequency in our series was relatively lower than other reports, especially in Western countries. We suggest that the BRCA1 gene might play only a limited role as a tumor suppressor gene in the majority of Japanese sporadic breast cancers.

摘要

为了研究BRCA1基因在日本散发性乳腺癌中可能的作用，我们使用5个微卫星标记，如D17S250、D17S846、D17S855、D17S579和NME1，分析了101例散发性乳腺癌中BRCA1区域（17q12 - q22）的杂合性缺失（LOH）情况。每个标记的LOH频率分别为14.9%（11/74）、11.9%（8/67）、14.3%（12/84）、5.3%（4/75）和13.3%（9/68）。5个标记中至少有一个出现LOH的发生率为23.8%（24/101）。BRCA1区域的LOH与临床病理因素无显著相关性。尽管采用了显微切割方法，但我们研究系列中的LOH频率相对低于其他报告，尤其是西方国家的报告。我们认为，在大多数日本散发性乳腺癌中，BRCA1基因作为肿瘤抑制基因可能仅起有限作用。