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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.

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Author

  • Kirsi M Kuusisto
  • Aleksandra Bebel
  • Mauno Vihinen
  • Johanna Schleutker
  • Satu-Leena Sallinen

Summary, in English

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.

Publishing year

2011

Language

English

Publication/Series

Breast Cancer Research

Volume

13

Issue

1

Document type

Journal article

Publisher

BioMed Central (BMC)

Topic

  • Cancer and Oncology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1465-5411