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Title: BRCA1 mutations in primary breast and ovarian carcinomas

Abstract

Loss of heterozygosity data from familial tumors suggested 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.

Authors:
; ; ; ; ; ;  [1]; ; ;  [2]
  1. National Institute of Environmental Health Sciences, Research Triangle Park, NC (United States)
  2. Myriad Genetics, Salt Lake City, UT (United States) [and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
68720
Resource Type:
Journal Article
Resource Relation:
Journal Name: Science; Journal Volume: 266; Journal Issue: 5182; Other Information: PBD: 7 Oct 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; CARCINOMAS; ETIOLOGY; GENE MUTATIONS; DETECTION; MAMMARY GLANDS; OVARIES; HUMAN CHROMOSOME 17

Citation Formats

Futreal, P.A., Cochran, C., Bennett, L.M., Haugen-Strano, A., Terry, L., Barrett, J.C., Wiseman, R., Liu, Q., Shattuck-Eidens, D., and Harshman, K.. BRCA1 mutations in primary breast and ovarian carcinomas. United States: N. p., 1994. Web. doi:10.1126/science.7939630.
Futreal, P.A., Cochran, C., Bennett, L.M., Haugen-Strano, A., Terry, L., Barrett, J.C., Wiseman, R., Liu, Q., Shattuck-Eidens, D., & Harshman, K.. BRCA1 mutations in primary breast and ovarian carcinomas. United States. doi:10.1126/science.7939630.
Futreal, P.A., Cochran, C., Bennett, L.M., Haugen-Strano, A., Terry, L., Barrett, J.C., Wiseman, R., Liu, Q., Shattuck-Eidens, D., and Harshman, K.. Fri . "BRCA1 mutations in primary breast and ovarian carcinomas". United States. doi:10.1126/science.7939630.
@article{osti_68720,
title = {BRCA1 mutations in primary breast and ovarian carcinomas},
author = {Futreal, P.A. and Cochran, C. and Bennett, L.M. and Haugen-Strano, A. and Terry, L. and Barrett, J.C. and Wiseman, R. and Liu, Q. and Shattuck-Eidens, D. and Harshman, K.},
abstractNote = {Loss of heterozygosity data from familial tumors suggested 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.},
doi = {10.1126/science.7939630},
journal = {Science},
number = 5182,
volume = 266,
place = {United States},
year = {Fri Oct 07 00:00:00 EDT 1994},
month = {Fri Oct 07 00:00:00 EDT 1994}
}