Zelada-Hedman M, Wasteson Arver B, Claro A, Chen J, Werelius B, Kok H, Sandelin K, Håkansson S, Andersen T I, Borg A, Børresen Dale A L, Lindblom A
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Cancer Res. 1997 Jun 15;57(12):2474-7.
To identify BRCA1 germ-line mutations in the breast and breast-ovarian cancer families in the Stockholm region, a total of 127 families were screened. DNA from 174 patients from these families were studied using various mutation screening techniques, followed by direct DNA sequencing. Mutations were identified in 7 of 20 families with breast and ovarian cancer and in one family with ovarian cancer only, whereas only 1 family of 106 with breast cancer showed a mutation. Thus, germ-line mutations in BRCA1 were found in one-third of the families with both breast and ovarian cancer, but in only 1% of the breast cancer families. The low frequency of germ-line mutations in the site-specific breast cancer families means that other genes are likely to segregate in these families.
为了鉴定斯德哥尔摩地区乳腺癌和乳腺-卵巢癌家族中的BRCA1种系突变，共筛查了127个家族。使用各种突变筛查技术对这些家族中174名患者的DNA进行了研究，随后进行直接DNA测序。在20个乳腺癌和卵巢癌家族中有7个家族以及仅1个卵巢癌家族中鉴定到了突变，而在106个乳腺癌家族中只有1个家族显示出突变。因此，在三分之一的乳腺癌和卵巢癌家族中发现了BRCA1种系突变，但在乳腺癌家族中仅发现1%有突变。位点特异性乳腺癌家族中种系突变的低频率意味着其他基因可能在这些家族中分离。
