1. BRCA1 mutations in primary breast and ovarian carcinomas
- Author
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Charles Cochran, Keith D Harshman, Wei Ding, Yoshio Miki, L. Michelle Bennett, Peter Söderkvist, Alexander Kamb, Sean V. Tavtigian, Zahra Gholami, Qingyun Liu, Suresh C. Jhanwar, Dennis G. Ballinger, Jeff Swensen, Donna M Shattuck-Eidens, Roger W. Wiseman, Astrid Haugen-Strano, Cheryl Frye, P. Andrew Futreal, Mark H. Skolnick, J. Cari Barrett, Jane Weaver-Feldhaus, Lori A. Terry, Jeffrey R. Marks, J. Dirk Iglehart, Andrew Berchuck, Melody McClure, and Ken Eddington
- Subjects
Adult ,Heterozygote ,endocrine system diseases ,Tumor suppressor gene ,Molecular Sequence Data ,Locus (genetics) ,Breast Neoplasms ,Biology ,Gene mutation ,Germline ,Loss of heterozygosity ,Germline mutation ,Breast cancer ,medicine ,Humans ,Genes, Tumor Suppressor ,Genetic Predisposition to Disease ,Allele ,Age of Onset ,skin and connective tissue diseases ,Alleles ,Germ-Line Mutation ,Ovarian Neoplasms ,Multidisciplinary ,Base Sequence ,BRCA1 Protein ,Middle Aged ,medicine.disease ,Neoplasm Proteins ,Cancer research ,Female ,Chromosomes, Human, Pair 17 ,Transcription Factors - Abstract
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.
- Published
- 1994