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Hereditary breast and ovarian cancer: new genes in confined pathways

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making.

OriginalsprogEngelsk
TidsskriftNature Reviews Cancer
Vol/bind16
Udgave nummer9
Sider (fra-til)599-612
Antal sider14
ISSN1474-175X
DOI
StatusUdgivet - sep. 2016

ID: 49833317