Riahi A, Kharrat M, Ghourabi M E, Khomsi F, Gamoudi A, Lariani I, May A E, Rahal K, Chaabouni-Bouhamed H
Laboratoire Génétique Humaine, Faculté de Médecine de Tunis, University Tunis El manar, Tunis, Tunisia.
Clin Genet. 2015 Feb;87(2):155-60. doi: 10.1111/cge.12337. Epub 2014 Feb 23.
The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women. To identify predictive factors for BRCA1/2 mutations, we screened the entire coding sequences and intron/exon boundaries of BRCA1/BRCA2 genes in 48 patients by direct sequencing. Twelve pathogenic mutations were detected (25%); three in BRCA1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in BRCA2 (c.1313dupT in two families and c.7654dupT in two families). We also identified 23 different polymorphisms and unclassified variants. These results indicate that our population has a spectrum of recurrent BRCA mutations.
BRCA1/BRCA2突变对突尼斯人群遗传性乳腺癌的贡献尚未得到准确估计。我们研究的目的是估计突尼斯女性早发性和家族性乳腺癌/卵巢癌中BRCA1/2基因致病突变的发生率和谱。为了确定BRCA1/2突变的预测因素，我们通过直接测序对48例患者的BRCA1/2基因的整个编码序列和内含子/外显子边界进行了筛查。检测到12个致病突变（25%）；BRCA1中有3个（4个家族中的c.211dupA、3个家族中的c.5266dupC和1个家族中的c.1504_1508delTTAAA），BRCA2中有2个新突变（2个家族中的c.1313dupT和2个家族中的c.7654dupT）。我们还鉴定出23种不同的多态性和未分类变异。这些结果表明，我们的人群具有一系列复发性BRCA突变。
