Hereditary risk of breast and ovarian cancer: BRCA1 and BRCA2

Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

Germline genetic abnormalities in the tumor suppressors BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC) in an autosomal-dominant manner. BRCA1 and BRCA2 are important for DNA repair, when mutated, chromosomal DNA accumulates further mutations that fuels tumorigenesis. Clinical genetic laboratory testing of individuals at risk identifies HBOC predisposing gene variants, which is crucial to guide between several management options for the condition. Furthermore, precise information regarding pathogenic variants supports treatment choices in the event of cancer development.

Original languageEnglish
Title of host publicationEncyclopedia of Cancer
Number of pages4
PublisherElsevier
Publication date1 Jan 2018
Pages214-217
ISBN (Electronic)9780128124857
DOIs
Publication statusPublished - 1 Jan 2018

    Research areas

  • BRCA1, BRCA2, Breast cancer, Genetic counseling, Genetic testing, Homologous recombination DNA repair, Ovarian cancer, PALB2, PARP inhibition, Risk assessment

ID: 251833367