Fricker J P, Muller D, Cutuli B, Rodier J F, Janser J C, Jung G M, Mors R, Petit T, Haegele P, Abecassis J
CRLCC Paul-Strauss, 3, rue de la Porte-de-l'Hôpital, 67085 Strasbourg Cedex.
Bull Cancer. 2000 Oct;87(10):739-44.
Thirty-seven breast/ovarian or breast-only cancer families selected on a regional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations were detected in 14 families (38%). We found seven different mutations, two of which have not been described before. Mutations at BRCA1 were present in 60% of breast/ovarian and 32% of breast-only cancer families. Mutations were frequent in families with at least one breast cancer case before age 40 (44%) and/or one bilateral breast cancer case (54%). Two mutations, namely 3600del11 and G1710X, are frequent in the population native from northeastern France. Oriented BRCA1 analysis should facilitate carrier detection in breast and/or ovarian cancer families stemming from this French area.
对在区域范围内挑选出的37个乳腺癌/卵巢癌或仅患乳腺癌的家族进行了BRCA1突变分析。通过直接序列分析和蛋白质截短试验相结合，在14个家族（38%）中检测到了突变。我们发现了7种不同的突变，其中两种此前未曾描述过。BRCA1突变存在于60%的乳腺癌/卵巢癌家族和32%的仅患乳腺癌的家族中。在至少有一例40岁前患乳腺癌病例（44%）和/或一例双侧乳腺癌病例（54%）的家族中，突变很常见。两种突变，即3600del11和G1710X，在法国东北部的本地人群中很常见。定向BRCA1分析应有助于检测来自该法国地区的乳腺癌和/或卵巢癌家族中的携带者。
