American journal of obstetrics and gynecology · 2017
Current and future role of genetic screening in gynecologic malignancies.
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Ring Kari L, Garcia Christine, Thomas Martha H, Modesitt Susan C
Аннотация
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk-reduction strategies. Given the speed of information, it is imperative to involve cancer genetics experts when counseling these patients. In addition, coordination of screening and care in conjunction with specialty high-risk clinics, if available, allows for patients to have centralized management for multiple cancer risks under the guidance of physicians with experience counseling these patients. The objective of this review is to present the current literature regarding genetic mutations associated with gynecologic malignancies as well to propose screening and risk-reduction options for these high-risk patients.
Предметные рубрики MeSH
AMP-Activated Protein Kinase KinasesDNA Mismatch RepairDNA Polymerase IIIDNA-Binding ProteinsEpithelial Cell Adhesion MoleculeFanconi Anemia Complementation Group ProteinsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGenital Neoplasms, FemaleHamartoma Syndrome, MultipleHereditary Breast and Ovarian Cancer SyndromeHumansLi-Fraumeni SyndromeLynch Syndrome IIMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNeoplastic Syndromes, HereditaryPTEN PhosphohydrolasePeutz-Jeghers SyndromeProtein Serine-Threonine KinasesRNA HelicasesTumor Suppressor Protein p53