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BRCA2 mutations in primary breast and ovarian cancers.

Publication ,  Journal Article
Lancaster, JM; Wooster, R; Mangion, J; Phelan, CM; Cochran, C; Gumbs, C; Seal, S; Barfoot, R; Collins, N; Bignell, G; Patel, S; Hamoudi, R ...
Published in: Nat Genet
June 1996

The second hereditary breast cancer gene, BRCA2, was recently isolated. Germline mutations of this gene predispose carriers to breast cancer, and, to a lesser extent, ovarian cancer. Loss of heterozygosity (LOH) at the BRCA2 locus has been observed in 30-40% of sporadic breast and ovarian tumours, implying that BRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases. To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas. Our analysis revealed alterations in 2/70 breast tumours and none of the ovarian carcinomas. One alteration found in the breast cancers was a 2-basepair (bp) deletion (4710delAG) which was subsequently shown to be a germline mutation, the other was a somatic missense mutation (Asp3095Glu) of unknown significance. Our results suggest that BRCA2 is a very infrequent target for somatic inactivation in breast and ovarian carcinomas, similar to the results obtained for BRCA1.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

June 1996

Volume

13

Issue

2

Start / End Page

238 / 240

Location

United States

Related Subject Headings

  • Transcription Factors
  • Sequence Deletion
  • Retinoblastoma Protein
  • Ovarian Neoplasms
  • Neoplasm Proteins
  • Mutation
  • Molecular Sequence Data
  • Middle Aged
  • Lymphocytes
  • Humans
 

Citation

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Lancaster, J. M., Wooster, R., Mangion, J., Phelan, C. M., Cochran, C., Gumbs, C., … Futreal, P. A. (1996). BRCA2 mutations in primary breast and ovarian cancers. Nat Genet, 13(2), 238–240. https://doi.org/10.1038/ng0696-238
Lancaster, J. M., R. Wooster, J. Mangion, C. M. Phelan, C. Cochran, C. Gumbs, S. Seal, et al. “BRCA2 mutations in primary breast and ovarian cancers.Nat Genet 13, no. 2 (June 1996): 238–40. https://doi.org/10.1038/ng0696-238.
Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, et al. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet. 1996 Jun;13(2):238–40.
Lancaster, J. M., et al. “BRCA2 mutations in primary breast and ovarian cancers.Nat Genet, vol. 13, no. 2, June 1996, pp. 238–40. Pubmed, doi:10.1038/ng0696-238.
Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, Barfoot R, Collins N, Bignell G, Patel S, Hamoudi R, Larsson C, Wiseman RW, Berchuck A, Iglehart JD, Marks JR, Ashworth A, Stratton MR, Futreal PA. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet. 1996 Jun;13(2):238–240.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

June 1996

Volume

13

Issue

2

Start / End Page

238 / 240

Location

United States

Related Subject Headings

  • Transcription Factors
  • Sequence Deletion
  • Retinoblastoma Protein
  • Ovarian Neoplasms
  • Neoplasm Proteins
  • Mutation
  • Molecular Sequence Data
  • Middle Aged
  • Lymphocytes
  • Humans