BRCA1 mutations in primary breast and ovarian carcinomas.

Details

Serval ID
serval:BIB_AE19EAB0F7B2
Type
Article: article from journal or magazin.
Collection
Publications
Title
BRCA1 mutations in primary breast and ovarian carcinomas.
Journal
Science
Author(s)
Futreal P.A., Liu Q., Shattuck-Eidens D., Cochran C., Harshman K., Tavtigian S., Bennett L.M., Haugen-Strano A., Swensen J., Miki Y., Eddington K., Mcclure M., Frye C., Weaverfeldhaus J., Ding W., Gholami Z., Soderkvist P., Terry L., Jhanwar S., Berchuck A., Iglehart J.D., Marks J., Ballinger D.G., Barrett J.C., Skolnick M.H., Kamb A., Wiseman R.
ISSN
0036-8075[print], 0036-8075[linking]
Publication state
Published
Issued date
10/1994
Volume
266
Number
5182
Pages
120-122
Language
english
Notes
Publication types: Journal Article ; Research Support, U.S. Gov't, P.H.S. Publication Status: ppublish
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.
Keywords
Adult, Age of Onset, Alleles, BRCA1 Protein, Base Sequence, Breast Neoplasms/genetics, Chromosomes, Human, Pair 17, Female, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, Humans, Middle Aged, Molecular Sequence Data, Neoplasm Proteins/genetics, Ovarian Neoplasms/genetics, Transcription Factors/genetics
Pubmed
Web of science
Create date
24/01/2008 15:33
Last modification date
20/08/2019 15:17
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