Unbound MEDLINE

Translational advances regarding hereditary breast cancer syndromes.

Abstract

Approximately 5-10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non-BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances with regard to the development of probabilistic models for hereditary breast cancer syndromes, the identification of specific genetic mutations responsible for these syndromes, as well as their testing and interpretations.

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  • Publisher Full Text
  • Authors

    Gage M, Wattendorf D, Henry LR

    Institution

    National Capital Area Breast Care Center, National Naval Medical Center, Bethesda, Maryland, USA.

    Source

    Journal of surgical oncology 105:5 2012 Apr 1 pg 444-51

    MeSH

    Ataxia Telangiectasia
    BRCA1 Protein
    BRCA2 Protein
    Breast Neoplasms
    Cell Cycle Proteins
    DNA-Binding Proteins
    Female
    Genetic Predisposition to Disease
    Genetic Testing
    Hamartoma Syndrome, Multiple
    Hereditary Breast and Ovarian Cancer Syndrome
    Humans
    Li-Fraumeni Syndrome
    Mutation
    Neoplastic Syndromes, Hereditary
    Nuclear Proteins
    PTEN Phosphohydrolase
    Peutz-Jeghers Syndrome
    Protein-Serine-Threonine Kinases
    RNA Helicases
    Translational Medical Research
    Tumor Suppressor Protein p53
    Tumor Suppressor Proteins

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    22441895