BRCA1 mutations in primary breast and ovarian carcinomas Journal Article


Authors: 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.; Weaver-Feldhaus, J.; Ding, W.; Gholami, Z.; Söderkvist, 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.
Article Title: BRCA1 mutations in primary breast and ovarian carcinomas
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: clinical article; controlled study; gene mutation; cancer susceptibility; ovary cancer; breast cancer; tumor suppressor gene; human; female; priority journal; article
Journal Title: Science
Volume: 266
Issue: 5182
ISSN: 0036-8075
Publisher: American Association for the Advancement of Science  
Date Published: 1994-10-07
Start Page: 120
End Page: 122
Language: English
DOI: 10.1126/science.7939630
PROVIDER: scopus
PUBMED: 7939630
DOI/URL:
Notes: SCIENCE -- Cited By :1044 -- Export Date: 14 January 2019 -- Article -- CODEN: SCIEA C2 - 7939630 -- Source: Scopus
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  1. Suresh C Jhanwar
    293 Jhanwar