Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers Journal Article


Authors: Rhei, E.; Bogomolniy, F.; Federici, M. G.; Maresco, D. L.; Offit, K.; Robson, M. E.; Saigo, P. E.; Boyd, J.
Article Title: Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers
Abstract: Hereditary ovarian cancers associated with germline mutations in either BRCA1 or BRCA2 were studied to determine whether somatic mutation of the P53 gene is required for BRCA-linked ovarian tumorigenesis and further, whether the spectrum of additional somatic molecular genetic alterations present in these tumors differs from that known to exist in sporadic ovarian cancers. Forty tumors, 29 linked to BRCA1 and 11 linked to BRCA2, were examined for mutational alterations in P53, K-RAS, ERBB-2, C-MYC, and AKT2. The presence of a P53 mutation in 80% of these cancers indicates that P53 mutation is common but not required for BRCA-linked ovarian tumorigenesis; notably, a significantly higher proportion of the P53 mutations in BRCA2-linked cancers were deletions or insertions compared with the more typical spectrum of missense mutations seen in BRCA1-linked cancers. Additionally, BRCA-linked ovarian carcinomas seem to develop through a unique pathway of tumorigenesis that does not involve mutation of K-RAS or amplification of ERBB-2, C-MYC, or AKT2.
Keywords: immunohistochemistry; clinical article; human tissue; gene mutation; somatic mutation; gene deletion; missense mutation; exons; ovarian neoplasms; ovary cancer; neoplasm proteins; brca2 protein; carcinogenesis; transcription factors; oncogene; molecular sequence data; genes, brca1; genes, myc; tumor suppressor protein p53; base sequence; oncogene k ras; genes, ras; codon; gene insertion; oncogene c myc; genes, erbb-2; germ-line mutation; genetic linkage; genes, p53; oncogene neu; arabidopsis proteins; plant proteins; humans; human; female; priority journal; article; potassium channels
Journal Title: Cancer Research
Volume: 58
Issue: 15
ISSN: 0008-5472
Publisher: American Association for Cancer Research  
Date Published: 1998-08-01
Start Page: 3193
End Page: 3196
Language: English
PUBMED: 9699640
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
Citation Impact
MSK Authors
  1. Kenneth Offit
    789 Offit
  2. Mark E Robson
    677 Robson
  3. Jeffrey Boyd
    112 Boyd
  4. Patricia E Saigo
    91 Saigo
  5. Esther   Rhei
    7 Rhei