A STRONG CANDIDATE FOR THE BREAST AND OVARIAN-CANCER SUSCEPTIBILITY GENE BRCA1
A STRONG CANDIDATE FOR THE BREAST AND OVARIAN-CANCER SUSCEPTIBILITY GENE BRCA1
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DOI：
10.1126/science.7545954
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发表时间：
1994-10-07
期刊：
影响因子：
56.9
通讯作者：
SKOLNICK, MH
中科院分区：
文献类型：
--
作者：
MIKI, Y;SWENSEN, J;SKOLNICK, MH
一个强有力的候选人17 q连锁BRCA1基因，影响乳腺癌和卵巢癌的易感性，已被确定的位置克隆方法。可能的易感性突变已被检测到的8个kinases假定分离BRCA1易感性等位基因。突变包括11个碱基对缺失、1个碱基对插入、终止密码子、错义取代和推断的调控突变。BRCA1基因在许多组织中表达，包括乳腺和卵巢，并编码一种预测的1863个氨基酸的蛋白质。这种蛋白质在其氨基末端区域含有锌指结构域，但与先前描述的蛋白质无关，BRCA1的鉴定应有助于早期诊断某些个体的乳腺癌和卵巢癌易感性，以及更好地了解乳腺癌生物学。
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins, identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.