Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Research output: Contribution to journalArticle

Abstract

Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland. Additionally, rare mutations in several other genes that interact with BRCA1 and BRCA2 increase the risk of HBC. Still, a majority of HBC cases remain unexplained which is challenging for genetic counseling. We aimed to analyze additional mutations in HBC-associated genes and to define the sensitivity of our current BRCA1/2 mutation analysis protocol used in genetic counseling.

Details

Authors
  • Kirsi M Kuusisto
  • Aleksandra Bebel
  • Mauno Vihinen
  • Johanna Schleutker
  • Satu-Leena Sallinen
External organisations
  • University of Tampere
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology
Original languageEnglish
Article numberR20
JournalBreast Cancer Research
Volume13
Issue number1
Publication statusPublished - 2011
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes