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Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

Publication ,  Journal Article
Merajver, SD; Pham, TM; Caduff, RF; Chen, M; Poy, EL; Cooney, KA; Weber, BL; Collins, FS; Johnston, C; Frank, TS
Published in: Nat Genet
April 1995

The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique. We now describe somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker. Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

April 1995

Volume

9

Issue

4

Start / End Page

439 / 443

Location

United States

Related Subject Headings

  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Ovarian Neoplasms
  • Oncogenes
  • Mutation
  • Molecular Sequence Data
  • Middle Aged
  • Humans
  • Genes, Tumor Suppressor
  • Genes, Dominant
 

Citation

APA
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ICMJE
MLA
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Merajver, S. D., Pham, T. M., Caduff, R. F., Chen, M., Poy, E. L., Cooney, K. A., … Frank, T. S. (1995). Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet, 9(4), 439–443. https://doi.org/10.1038/ng0495-439
Merajver, S. D., T. M. Pham, R. F. Caduff, M. Chen, E. L. Poy, K. A. Cooney, B. L. Weber, F. S. Collins, C. Johnston, and T. S. Frank. “Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.Nat Genet 9, no. 4 (April 1995): 439–43. https://doi.org/10.1038/ng0495-439.
Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet. 1995 Apr;9(4):439–43.
Merajver, S. D., et al. “Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.Nat Genet, vol. 9, no. 4, Apr. 1995, pp. 439–43. Pubmed, doi:10.1038/ng0495-439.
Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet. 1995 Apr;9(4):439–443.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

April 1995

Volume

9

Issue

4

Start / End Page

439 / 443

Location

United States

Related Subject Headings

  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Ovarian Neoplasms
  • Oncogenes
  • Mutation
  • Molecular Sequence Data
  • Middle Aged
  • Humans
  • Genes, Tumor Suppressor
  • Genes, Dominant