Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier

Fam Cancer. 2013 Mar;12(1):125-7. doi: 10.1007/s10689-012-9572-0.

Abstract

BRCA1 functions as a tumor suppressor gene and germline and somatic mutations in this gene have been shown to be associated with many types of cancer. We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutation-c.68_69delAG.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genes, BRCA1*
  • Germ-Line Mutation
  • Heterozygote*
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Loss of Heterozygosity*
  • Middle Aged