BRCA1 Mutations in Primary Breast and Ovarian Carcinomas

作者：P. Andrew Futreal, Qingyun Liu, Donna M. Shattuck-Eidens, Charles Cochran, Keith Harshman, Sean V. Tavtigian, L. Michelle Bennett, Astrid C. Haugen, Jeffrey J. Swensen, Yoshio Miki, Ken Eddington, Melody McClure, Cheryl Anne Frye, Jane Weaver-Feldhaus, Wei Ding, Zahra Gholami, Peter Söderkvist, Lori A. Terry, Suresh C. Jhanwar, Andrew Berchuck, James Dirk Iglehart, Jeff Marks, Dennis G. Ballinger, J. Carl Barrett, Mark H. Skolnick, Alexander Kamb, Roger W. Wiseman · 发表于：Science · 年份：1994 · DOI：10.1126/science.7939630 · 被引用次数：1212 · 研究领域：BRCA gene mutations in cancer、Ovarian cancer diagnosis and treatment、Genomic variations and chromosomal abnormalities

Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.