Tonin P, Serova O, Simard J, Lenoir G, Feunteun J, Morgan K, Lynch H, Narod S
Department of Medicine, Montreal General Hospital, Quebec, Canada.
Hum Mol Genet. 1994 Sep;3(9):1679-82. doi: 10.1093/hmg/3.9.1679.
A gene for hereditary breast and ovarian cancer, BRCA1, has been mapped to chromosome 17q12-q21. This gene is responsible for cancer susceptibility in the majority of families with multiple cases of ovarian cancer and early-onset breast cancer. We report linkage results of a family with 10 cases of breast cancer and a single case of ovarian cancer. A recombinant event in this family places BRCA1 distal (telomeric) to the locus EDH17B2, which codes for the enzyme estradiol 17 beta-dehydrogenase II. This recombinant is based on the appearance of breast cancer in a 45 year old woman. Under our genetic model, we estimate the probability that this woman carries a BRCA1 mutation to be 94%. These data further reduce the region of assignment of BRCA1 on chromosome 17q12-q21 and should expedite positional cloning of this important gene.
一种遗传性乳腺癌和卵巢癌相关基因BRCA1已被定位到17号染色体的17q12 - q21区域。该基因在大多数有多个卵巢癌病例和早发性乳腺癌病例的家族中导致癌症易感性。我们报告了一个有10例乳腺癌和1例卵巢癌的家族的连锁分析结果。这个家族中的一个重组事件将BRCA1定位在编码雌二醇17β - 脱氢酶II的基因EDH17B2位点的远端（端粒方向）。这个重组是基于一名45岁女性患乳腺癌的情况。在我们的遗传模型下，我们估计这名女性携带BRCA1突变的概率为94%。这些数据进一步缩小了BRCA1在17号染色体17q12 - q21上的定位区域，应该会加快这个重要基因的定位克隆。
