Osorio A, Robledo M, San Román J M, Albertos J, Andrade J, Barabash A, Benítez J
Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
Cancer Lett. 1997 Dec 23;121(2):115-8. doi: 10.1016/s0304-3835(97)00243-7.
The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.
最近分离出的BRCA2基因约占家族性乳腺癌的45%以及大多数男性乳腺癌家族病例。我们利用单链构象多态性（SSCP）结合直接测序法，对12个西班牙高风险乳腺癌/卵巢癌家族进行了BRCA2基因突变筛查。我们在12个家族中的4个（33.3%）发现了突变，其中包括两个有男性乳腺癌患者的家族。三个突变为移码突变，一个为错义突变。其中两个突变先前已有报道，另外两个是新发现的突变。
