Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation

Stem Cell Res. 2021 May:53:102364. doi: 10.1016/j.scr.2021.102364. Epub 2021 Apr 23.

Abstract

Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA2 Protein / genetics
  • Breast Neoplasms*
  • Female
  • Founder Effect
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Ovarian Neoplasms*
  • Portugal

Substances

  • BRCA2 Protein
  • BRCA2 protein, human