title: Genetics of gynaecological cancers.
abstract: Gynaecological cancers accounted for 16.3% of all cancers and 13.9% of all cancer deaths in women globally in 2012. Cancer of the cervix is the most common gynaecological cancer, followed by cancers of the uterus and the ovary. Although cervical cancer is almost exclusively triggered by human papilloma virus infection, approximately 5% of all uterine cancers and 20% of all ovarian cancers are caused by germline mutations in cancer predisposition genes. A number of genetic syndromes are associated with rarer gynaecological tumours. This review focuses on the epidemiology and pathology of inherited gynaecological cancer predisposition syndromes arising because of germline mutations.
authors.affiliation: Department of Clinical Genetics, East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Electronic address: pconstantinou@nhs.net.
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Constantinou
authors.affiliation: Department of Clinical Genetics, East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005833:Genital Neoplasms, Female / Q000145:classification / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics; D002583:Uterine Cervical Neoplasms / Q000235:genetics; D014594:Uterine Neoplasms / Q000235:genetics
keywords: BRCA1; BRCA2; Lynch syndrome; high-throughput DNA sequencing; ovarian cancer; uterine cancer