Journal of surgical oncology · 2012
Translational advances regarding hereditary breast cancer syndromes.
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Gage M, Wattendorf D, Henry L R
Аннотация
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.
Предметные рубрики MeSH
AMP-Activated Protein Kinase KinasesAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCell Cycle ProteinsCheckpoint Kinase 2DNA-Binding ProteinsFanconi Anemia Complementation Group N ProteinFanconi Anemia Complementation Group ProteinsFemaleGenetic Predisposition to DiseaseGenetic TestingHamartoma Syndrome, MultipleHereditary Breast and Ovarian Cancer SyndromeHumansLi-Fraumeni SyndromeMutationNeoplastic Syndromes, HereditaryNuclear ProteinsPTEN PhosphohydrolasePeutz-Jeghers SyndromeProtein Serine-Threonine KinasesRNA HelicasesTranslational Research, BiomedicalTumor Suppressor Protein p53Tumor Suppressor Proteins