Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed

Cancer Lett. 2002 Nov 8;185(1):61-70. doi: 10.1016/s0304-3835(01)00845-x.

Abstract

BRCA1 and BRCA2 genes were screened for loss-of-function mutations in a series of 85 patients having at least one first- or second-degree relative affected by breast and/or ovarian cancer. All BRCA1 exons and BRCA2 exons 10 and 11 were screened with a combination of methods including SSCP, PTT and direct sequencing. We have found disease-associated mutations in 14 families (16.5%), eleven in BRCA1 and three in BRCA2. The known founder mutation 5382insC of BRCA1 was identified in seven unrelated families. The other mutations identified include the non-sense R1751X, the splice junction variant 5586G>A of BRCA1 and three frameshifts, 2024del5, 3034del4, and 6631del5, of BRCA2. Nine out of these 14 families had a family history of three or more breast/ovarian cancer cases. A large number of polymorphic or unclassified variants is also reported. Combined with our previously published data 5382insC was found in nine out of 20 families (45%), suggesting that this mutation may represent a common founder mutation in the Greek population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing
  • Germ-Line Mutation / genetics*
  • Greece / epidemiology
  • Humans
  • Immunoenzyme Techniques
  • Introns
  • Male
  • Middle Aged
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Estrogen / metabolism

Substances

  • Receptors, Estrogen