土耳其乳腺癌患者的生殖系BRCA1和BRCA2基因突变

Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients.

作者信息

Ozdag H, Tez M, Sayek I, Müslümanoglu M, Tarcan O, Içli F, Oztürk M, Ozçelik T

机构信息

Department of Molecular Biology and Genetics, Bilkent University, 06533, Ankara, Turkey.

出版信息

Eur J Cancer. 2000 Oct;36(16):2076-82. doi: 10.1016/s0959-8049(00)00277-x.

DOI:10.1016/s0959-8049(00)00277-x

PMID:11044644

Abstract

Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A-->G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population.

摘要

对50名土耳其乳腺癌和/或卵巢癌患者进行了生殖系BRCA1和/或BRCA2突变筛查，这些患者包括遗传性、家族性、早发性和男性癌症组。通过异源双链分析和DNA测序对基因组DNA样本进行检测。在6名（33%）遗传性乳腺癌和/或卵巢癌患者中的2名患者中发现了2种截短型BRCA2突变，1种为新突变（6880 insG），另1种为先前报道的突变（3034 delAAAC）。在早发性组的27名个体中的2名患者中发现了1种新的截短型突变（1200 insA）和1种错义突变（2080A→G）的BRCA1突变。在50名乳腺癌患者中，共在BRCA1和BRCA2基因中鉴定出4种（8%）致病突变。此外，在23名患者中鉴定出5种BRCA1序列变异。这些结果表明，BRCA1和BRCA2基因参与了土耳其人群中部分而非全部形式的遗传性乳腺癌易感性。